Delayed intracranial hemorrhage is a rare complication of treatment for central nervous system tumors. This may be secondary to malignant transformation of the tumor or vasculopathy related to radiation therapy (RT). While most reports on radiation-induced vasculopathy in children with optic pathway gliomas are associated with ischemic complications, there are only two reports of hemorrhagic complications in these patients. In both cases, the hemorrhage was asymptomatic and remote from the site of the original tumor but within the field of irradiation. We describe a female patient who underwent surgery for an optico-chiasmatic pilocytic astrocytoma (PA) at the age of 12 followed by RT at the age of 17 for tumor progression. The patient was followed with serial magnetic resonance imaging (MRI) scans showing marginal regression and no subsequent evidence of tumor recurrence, including the most recent MRI done only 6 months before the latest presentation. She then developed a symptomatic intratumoral hemorrhage at the age of 32 for which she underwent emergent surgery. To our knowledge, this is the first report of a nonaneurysmal-delayed hemorrhage within the site of previous surgery, several years after RT for a suprasellar PA. We review literature on delayed vasculopathy following the treatment of pediatric optic pathway gliomas and discuss the possible mechanisms of hemorrhage in our case. These long-term follow-up outcomes add significant insight and have implications in patient management.

Background: Children with intractable epilepsy have chronic dysfunction of the autonomic nervous system causing myocardial ischemia. Heart-type fatty acid-binding protein (H-FABP) is a sensitive biomarker for myocardial ischemia. Aims: We aimed to evaluate serum levels of H-FABP during seizures compared to their interictal levels and healthy controls and changes in heart rate (HR) and HR variability (HRV) in epileptic children with intractable seizures. Materials and Methods: We included 30 epileptic seizures in 25 children with intractable epilepsy and 30 matched controls. They were subjected to video-electroencephalography monitoring simultaneously with Holter electrocardiogram and measurement of H-FABP. Results: Mean serum levels of H-FABP were increased significantly in patients either in the ictal or interictal periods compared to that in the controls (P < 0.001 and P< 0.01, respectively). There is no significant difference in serum levels of the H-FABP in the ictal and interictal periods. The basal time domain measures of HRV were significantly lower in the patient group compared to the control group. Conclusion: H-FABP might suggest a degree of myocardial ischemia in intractable epilepsy. HRV is impaired in patients with refractory seizures.

Background: Hyponatremia has long been recognized as a potentially serious metabolic consequence of tuberculous meningitis (TBM) occurring in 35–65% of children with the disease. The syndrome of inappropriate antidiuretic hormone (SIADH) secretion has for long been believed to be responsible for the majority of cases of hyponatremia in TBM. Cerebral salt wasting syndrome (CSWS) is being increasingly reported as a cause of hyponatremia in some of these children. Aim: This study was done to determine the frequency and causes of hyponatremia in children with TBM. Methods: Children with newly diagnosed TBM admitted over a 2-year period (January 2009 to December 2010) were included. All patients received anti-tubercular therapy, mannitol for cerebral edema, and steroids. Patients were monitored for body weight, urine output, signs of dehydration, serum electrolytes, blood urea nitrogen, serum creatinine, and urinary sodium. Hyponatremia was diagnosed if the serum sodium was <135 mEq/L. CSWS was diagnosed if there was evidence of excessive urine output, volume depletion, and natriuresis in the presence of hyponatremia. The outcome in terms of survival or death was recorded. Results: Twenty-nine of 75 children (38.7%) with TBM developed hyponatremia during their hospital stay. In 19 patients, hyponatremia subsided after the discontinuation of mannitol. Ten patients with persistent hyponatremia had CSWS. There were no patients with SIADH. Conclusions: CSWS is an important cause of hyponatremia in children with newly diagnosed TBM. In our patients, it was more commonly seen than SIADH.

Introduction: Epilepsy accounts for 1% of the global disease burden and about 8–10 million epilepsy patients live in India. About 30–40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy. Patients and Methods: Children admitted under our team with refractory epilepsy as per the International League Against Epilepsy (ILAE) criteria in the last 3 years were included in the study. Results: Refractory epilepsy constituted 13.3% of inpatients in the pediatric group. Males dominated with 68.9% of these patients. Nearly 34.4% of these patients were found to suffer from various neurometabolic diseases. Almost 3.5% were due to pyridoxine-dependent convulsions. This group of patients showed an excellent response to dietary manipulation, disease-modifying treatment for the metabolic disorder, and supportive small-dose anticonvulsants. During follow-up, they showed very good response with reference to global development and seizure control. Conclusion: Pyridoxine-dependent convulsions are relatively rare forming about 3.5% of refractory epilepsies in this series. With initiation of appropriate therapy, results with reference to seizure control as well as neurodevelopment became evident within 2 weeks, and at 1-year follow-up, complete independence for majority of the needed activities is achieved with minimum cost, almost zero side effects, and absolute elimination of the need for palliative surgery.

Objective: Meningiomas in children is a rare occurrence. Primary intraventricular meningiomas (IVMs) are even rarer with reported incidence of 0.5%–5% of all meningiomas. The aim of the study was to describe the demographic profile, location, surgical approach, complications, and histopathology of six pediatric patients with IVM. Materials and Methods: We retrospectively analyzed all intraventricular tumors operated at our Institute from January 2010 till July 2015. Patients' clinical details and follow-up were obtained from hospital records and scans were obtained from picture archiving and communication system. Results: We found 6 pediatric patients (age ≤18 years) with histopathologically proven IVM. The mean age in this series was 14.6 years. Tumor was most commonly approached through the superior parietal lobule in this series. Gross total excision was achieved in all patients. The blood loss in the series was in the range of 600–2000 ml with a mean of 1100 ml. All were grade 1 meningioma on histopathological examination. Transitional meningioma was the most common histological subtype. None of the patients had a recurrence at last follow-up. Conclusions: Pediatric IVMs are rare tumors. They tend to have a male preponderance in contrast to adults which have a preference for females. Parietooccipital transcortical, transcallosal approach, middle/inferior temporal gyrus approach are the described techniques to tackle such tumors depending on the location of such tumors. Surgeons should watch out for massive blood loss during surgery, especially via the parietooccipital transcortical approach.

Introduction: Enuresis is defined as the repeated voiding of urine into clothes or bed at least twice a week for at least 3 consecutive months in a child who is at least 5 years of age. The behavior is not due exclusively to the direct physiologic effect of a substance or a general medical condition. Diurnal enuresis defines wetting, whereas awake and nocturnal enuresis refers to voiding during sleep. Primary enuresis occurs in children who have never been consistently dry through the night, whereas secondary enuresis refers the resumption of wetting after at least 6 months of dryness. Monosymptomatic enuresis has no associated daytime symptoms, and nonmonosymptomatic enuresis, which is more common, often has at least one subtle daytime symptom. Monosymptomatic enuresis is rarely associated with significant organic underlying abnormalities. Obsessive–compulsive disorder (OCD) is a chronic disabling illness characterized by repetitive, ritualistic behaviors over which the patients have little or no control. The purpose of this study was to investigate the relationship between OCD and nonmonosymptomatic nocturnal enuresis (NMNE). Materials and Methods: In this case–control study, we evaluated 186 children aged 6–17 years old who were visited in the pediatric clinics of Amir Kabir Hospital, Arak, Iran. The control group included 93 healthy children, and the case group included 93 age- and sex-matched children with stage 1–3 chronic kidney disease (CKD). Then, the children's behavioral status was evaluated using the Children's Yale-Brown Obsessive–Compulsive Scale. Results: The difference in compulsion was significant (P = 0.021), whereas the difference in obsession was significant between the two groups (P = 0.013). The most common symptom in CKD children with compulsion was silent repetition of words. Conclusion: Compulsive and obsessive are more common in NMNE versus healthy children. The observed correlation between compulsive-obsessive and NMNE makes psychological counseling mandatory in children with NMNE.

Background: Neonatal sonography of the brain is now an essential part of newborn care, particularly in high risk and unstable premature infants. Cranial ultrasound is the most available and easily repeatable imaging technique for the neonatal brain showing brain development and the most frequently occurring forms of cerebral injury in the preterm and terms. This study aims to assess the importance of cranial ultrasound as an investigatory modality for high-risk neonates and to find out the morphology of various cerebral lesions and correlate clinically. Methodology: An observational correlation clinical study was conducted at Sardar Patel Medical College, Bikaner involving 100 high-risk neonates admitted to Neonatal Intensive Care Unit (NICU) who was subjected to neurosonography on selected days as per protocol. Perinatal details were recorded, and clinical examination with appropriate investigations was done. The cranial ultrasound was done, and morphology of various findings was studied and recorded. Clinical correlation with cranial ultrasound findings and follow-up was done. Results: On cranial ultrasound, 38% of neonates had abnormal findings. Twelve percent of these had evidence of intracranial bleed, 13% periventricular echogenicity, 7% had ventriculomegaly, 2% had cerebral edema, and 1% had leukomalacia. Three neonates had findings suggestive of simple cyst in middle cranial fossa, agenesis of corpus callosum, and choroid plexus cyst. Conclusions: Cranial ultrasonography is the best point of care neuroimaging method available for high-risk neonates. It is critical as an investigatory modality in NICU and effectively documents morphology of cerebral damage.

Context: Spinal dysraphisms are congenital abnormalities of the spine due to imperfect fusion of midline mesenchymal, bony and neural structures. Imaging plays a vital role in their evaluation as significant portion of patients may present with concurrent anomalies that need to be corrected simultaneously to avoid repeat surgeries. Aims: The aims of the study were to evaluate Spinal dysraphisms using USG and MRI and to correlate imaging findings with operative findings in patients undergoing surgery. Settings and Design: Hospital based observational study conducted over a period of year. Materials and Methods: 38 cases of both sexes and below 12 years of age with spinal dysraphism were studied. USG was performed in 29 cases where acoustic window was available for proper evaluation. MRI was performed in all cases. USG findings were compared with MRI findings and operative follow up was taken in 23 cases who underwent operative management. Statistical Analysis Used: Results were analysed using percentage and arithmetic mean. Results: 39.47 % cases were male and 60.53 % cases were female. Neonatal period was the most common presenting age group. Closed spinal dysraphism (63.16%) was more common than open (36.84%). 79.31% cases showed full agreement between spinal USG and MRI examinations and 6 out of 20.69% showed partial agreement. On operative correlation, USG findings were confirmatory in 91.30% cases and MRI findings were confirmatory in 100% cases. Conclusions: USG can be used as the initial modality for evaluation of spinal dysraphism as well as for screening of suspected cases. MRI is indicated to confirm abnormal USG findings, which shows all concurrent abnormalities and also provides additional anatomical details relevant to surgical planning.

Introduction/Background: Neural tube defects (NTD) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination. Aims and Objectives: The aim of this study was to determine the incidence, types, demographics, risk factors, and other associated anomalies relevant to NTDs in Kashmir Valley. Materials and Methods: A 2-year hospital-based prospective study was carried out from November 2013 to October 2015. A detailed history of the mother was taken along with detailed clinical examination of neonate including measurement of head circumference and checking the status of fontanella, whether - lax/full/bulging/or tense, type of NTD. Investigations that were done included were X-ray skull: Anteroposterior (AP) and lateral, X-ray spine: AP and lateral, ultrasonography abdomen, magnetic resonance imaging: Spine and brain. Results: The total number of babies with NTD's was 125 with an overall incidence of 0.503. District Kupwara was having the highest incidence (1.047) and district Srinagar the lowest incidence of NTD's (0.197). The majority of NTD's (116 cases, 92.8%) were found in the rural areas. Among the different types of NTD's, spina bifida had an incidence of 0.342 (85 cases, 68%), and anencephaly had an incidence of 0.113 (28 cases, 22.4%). There was a slight preponderance of females over males with NTD's. There were70 females (56%) and 55 males (44%) respectively with a male:female ratio of 0.8:1. Conclusions: The incidence rates of NTDs are very high for Kashmir Valley. Geographical distribution of NTDs at this place confirms a relationship between the socioeconomic status, educational status, maternal age and environmental factors for the development of an NTD. The results of this study point to the importance establishing a health policy to prevent NTDs in Kashmir Valley.

Intraventricular meningiomas are rare in the pediatric population. These tumors are often large in size and aggressive in behavior when they occur in children. The management of these tumors is a surgical challenge.

We report a case of vertically transmitted chikungunya infection in heterozygous twin neonates presenting as seizures, encephalopathy, midfacial hyperpigmentation, anemia, and thrombocytopenia. This could be considered as a rare cause of neonatal seizure and identification would help in appropriate management.

One of the most commonly used complementary and alternative practices in children with autism spectrum disorder (ASD) is the supplementation of omega-3. We describe the case of a child with ASD who seemed to respond to omega-3 supplementation in a relevant and lasting manner. So far, based on the results of randomized clinical trials, evidence-based medicine negates the effectiveness of omega-3 in ASD children. Nevertheless, considering anecdotal experiences, including that of our patient, and nonrandomized trials, the presence of a subgroup of ASD patients who are really responders to omega-3 cannot be excluded. These responders might not appear when evaluating the omega-3 effects in a sample taken as a whole. Studies that check for the possible presence of this subgroup of ASD individuals responders to omega-3 are necessary.

Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms – meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation. Antenatally, the diagnosis may be suggested by ultrasound examination and by elevated maternal alpha-fetoprotein level. Here, we describe a case of meroanencephaly who was discharged from the hospital in fair condition despite the life-threatening anomaly.

Intrinsic brainstem epidermoid is extremely rare, and only 14 cases have been reported. Authors report a classic case of brainstem epidermoid in a 14-year-old male child presenting with symptoms of brainstem involvement. The child underwent a successful surgical excision. The lesion was intrinsic and caused diagnostic dilemma based on conventional radiological images. Based on our experience in this case and a thorough review of literature, we are of the opinion that diffusion-weighted images are very important in establishing the diagnosis. Such lesions are challenging and attempt to remove adherent tumor capsule may produce additional neurological deficits.

Intramedullary abscess is a rare condition with high rate of mortality and morbidity. We are presenting a case of delayed intramedullary abscess in an operated case of spinal lipoma, after 2 years of primary surgery. To best of our knowledge this only second case of intramedullary abscess in a case of spinal lipoma without dermal sinus.

Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis. Interestingly, he also had additional asymptomatic kyphotic deformity of dorsal spine; however, odontoid proves hypoplasia was not observed. He was only symptomatic for cervical compression, accordingly surgery was planned. The patient was planned for correction of cervical kyphotic deformity under general anesthesia, underwent fourth cervical corpectomy with resection of posterior longitudinal ligament and fusion with autologous bone graft derived from right fibula, which was refashioned approximating to the width of the corpectomy size after harvesting and fixed between C3 and C5 vertebral bodies and further secured with anterior cervical plating. He tolerated surgical procedure well with improvement in power with significant reduction in spasticity. Postoperative X-ray, cervical spine revealed complete correction of kyphotic deformity cervical spine. At follow-up 6 months following surgery, he is doing well. Successful surgical correction of symptomatic cervical kyphotic deformity can be achieved utilizing anterior cervical corpectomy, autologous fibular bone graft, and anterior cervical plating.

Acute disseminated encephalomyelitis (ADEM) is an idiopathic inflammatory demyelinating disease of the central nervous system (CNS) and considered mostly a monophasic course. Recurrence of ADEM is rare entity, posing diagnostic dilemma with multiple sclerosis (MS). There were no definite diagnostic criteria or established treatment for ADEM. International Pediatric MS Study Group laid down first consensus definition. We report a boy presented with recurrent episodes of fever, paraparesis, seizure, and unconsciousness. Magnetic resonance imaging (MRI) brain revealed the recurrence of lesions in the same brain site of the previous event. The first and second events were at age of three and five, respectively, with no neurological deficit, clinically and MRI, in between period of 24 months. We found that he responded dramatically both episodes with intravenous immunoglobulin treatment and no CNS deficit was found on 3-year prospective evaluation to exclude MS. We diagnosed recurrent ADEM.

The Arnold–Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities. Papilledema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To underscore this noteworthy complication, the authors report a case of an 8-year-old boy who presented with nyctalopia and suboccipital headaches, but was diagnosed serendipitously as a case of papilledema due to Chiari I malformation.

Incidence of gliomas presenting with hemorrhage is around 3.7–7.2%. Low-grade gliomas account for <1% tumor with hemorrhage. Infants presenting with cerebellar pilocytic astrocytomas (PAs) and hemorrhage with thrombocytopenia have not been reported. We report an interesting case of a 9-month-old infant who presented to the emergency department in a drowsy state with recurrent vomiting. Laboratory investigations showed anemia, thrombocytopenia, and coagulopathy. Radiological evaluation showed a large PA with bleed. The patient was treated with retromastoid suboccipital craniotomy and tumor excision and improved postoperatively. Cerebellar PA with bleed and coagulopathy in infants has not been reported in literature till date. Their presentation seems to be acute in nature, and high index of suspicion is required for the diagnosis of these posterior fossa tumors, which can deteriorate rapidly in infants.

Dyke–Davidoff–Masson syndrome (DDMS) is an uncommon condition, in which the diagnosis is mainly done by various clinical presentations along with positive radiological findings. Patients have facial asymmetry, seizures, learning difficulties, and contralateral hemiparesis. The radiological discoveries of the same incorporate cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses. Here, we report a case of a 10-year-old female child who presented with a single episode of convulsion, mental retardation, and contralateral hemiparesis. Magnetic resonance imaging of the brain showed unilateral atrophy of the left cerebral hemisphere with dilatation of ipsilateral lateral ventricle and ipsilateral sulcal prominence. These findings were suggestive of the diagnosis of DDMS.

Schwartz–Jampel syndrome is a rare autosomal recessive disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. The patients with Schwartz–Jampel syndrome have muscle stiffness and electromyography reveals complex, repetitive discharges as myotonic discharges. It is unusual for a Schwartz-Jampel syndrome case to have recurrent gastrointestinal bleeding episodes. The stable endothelial barrier is provided by perlecan which is an important component of vascular structures. Thus, perlecan deficiency may cause recurrent gastroduodenal bleeding. Our report is unique with being the first reported Schwartz–Jampel syndrome case with gastrointestinal bleeding.

Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest and giant melanocytic nevi on thoraco-abdomen, back, and gluteal region. Computed tomography scan of the brain showed calcification in the pons, right cerebellar hemisphere, and left medial temporal lobe. Skin biopsy done from nodular hyperpigmented site was suggestive of melanocytic nevi. Electroencephalogram showed multifocal epileptiform discharges.

The existence of neural connection between the limbic system (hypothalamus, hippocampus, amygdala, and other adjacent areas) and the autonomic nervous system has been postulated to trigger severe hemodynamic responses. The hemodynamic consequences of stimulation of amygdala or hippocampus have been sporadically reported in animal studies and adult patients. However, the effect of this stimulation in pediatric patients is scarce. We present our experience of three cases of sympatholysis during intraoperative manipulation of amygdalohippocampus and review the pertinent literature.

Vein of Galen malformation (VOGM) is a rare intracranial vascular malformation. Before the advent and advancement of various endovascular techniques, there was dismal prognosis. Rarely, this condition may spontaneously thrombose without the need for surgical or endovascular treatment with good prognosis. We report a case of an 8-month-old infant who had serial imaging, suggestive of VOGM and presented to us for further management, wherein the imaging revealed spontaneous thrombosis.

Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disease characterized by end-organ resistance to parathyroid hormone. In adulthood, heterogeneous neurological and psychiatric disorders have been reported which are associated with hypoparathyroidism in general and with PHP in particular, while for childhood, data are scanty. We report a case of a boy with PHP type 1b, in whom neurological signs at the onset prevailed, characterized by tic-like dyskinesias associated with a series of heterogeneous not well-defined neurological and behavioral features, describing the diagnostic work-up performed and the follow-up. We suggest that the diagnostic hypothesis of PHP might be considered when dealing with a child with tic-like dyskinesias, especially if associated with a series of heterogeneous not well-defined neurological and behavioral features. In these cases, treatment with calcitriol and calcium has to be started as soon as possible to achieve a prompt and persistent clinical improvement.

Congenital facial palsy (CFP) is clinically defined as facial palsy of the seventh cranial nerve which is present at birth or shortly thereafter. It is generally considered to be either developmental or acquired in origin. Facial palsy of developmental origin is associated with other anomalies including those of pinna and external auditory canal, which range from mild defects to severe microtia and atresia. We report a 2-day-old male newborn that had right CFP with bilateral anotia and atresia of external auditory canals which is rare.

Perforation of abdominal viscera and protrusion of the distal end of ventriculoperitoneal shunt (VPS) through natural orifice is well known but rare complication. We report a case of a transanal protrusion of distal end of VPS through appendix perforation without any symptomatology of prior appendicitis. To the best of our knowledge, no case of such kind has been reported in literature yet. The management plan of these patients should be looked in a different way because they may have underlying inflammation of the appendix and distal end of shunt removal should be done by proper surgical exploration followed by added appendicectomy.

Latest research data have emphasized the interaction between the nervous and the immune systems. In this regard, it has been demonstrated that the disruption of the blood–brain barrier (BBB) secondary to peripheral inflammation may play a key role in this relationship. This assumption is linked to recent findings according to which units that constitute the BBB are not only simply neurologic but have also been reconsidered as “neurovascular” elements, through which immune system molecules are vehiculated within the central nervous system (CNS). Herein, we report two cases of food allergy (FA) and one case of infective gastroenteritis, associated with a spectrum of neurologic disorders involving both the CNS and the peripheral nervous system (PNS), postulating some etiopathogenic hypotheses to explain the link between peripheral inflammation and diseases of the nervous system (NS). Three pediatric cases of secondary NS involvement after gastrointestinal (GI) inflammation of different nature have been reported. The first case highlights the link between FA and CNS; the second one is based on a description of a link between GI infection and CNS involvement while the third one describes the relationship between FA and PNS. The importance of these reports relies on the clinical demonstration of a link between the immune system and the NS. The relationship between immune system and NS seems to have pleiotropic aspects, involving different areas of the NS, such as CNS and PNS, which also seem to be in some way interconnected.

Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test. We emphasized that these findings may serve as possible initial presentations of MPS IIIA; therefore, screening for MPS should be done in all patients with unexplained psychomotor retardation and progressive hyperactivity.