Intramedullary dermoid cyst is a rare entity. It is usually associated with spinal dysraphism and dermal sinus. Our case is an 18-months-old female child who presented with history of fever and mild difficulty in moving left leg. She had a sinus in mid dorsal spine since birth with history of intermittent discharge from it. On magnetic resonance imaging of spine she was diagnosed to have large intramedullary epidermoid/dermoid cyst in the D2-7 vertebral level with a sinus tract. A dermoid cyst along with the sinus tract was excised. Post-operative follow up period was uneventful with full recovery.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Rathke's cleft cyst (RCC) are benign, epithelium-lined sellar and suprasellar cysts believed to originate from remnants of the Rathke pouch. Here, we report a rare case of entirely suprasellar RCC in a 4.5-year-old child causing hypopituitarism, who presented to us with bilateral cryptorchidism. Subsequently we discuss the distinct rarity of entirely suprasellar RCC presenting in this fashion and the relevant literature is also discussed.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids. The attempt of this paper is to review the classical and not-so-classical MR imaging manifestations of adrenoleukodystrophy. A review of literature is done to describe the pathophysiology of the disease and the imaging differences between childhood and adult-onset of the disease. The literature is reviewed to explain the link with Addison's disease. In consensus the magnetic resonance imaging (MRI) findings of symmetrical occipital white matter lesions which progress in a rostro-caudal direction is the classical appearance of ALD. Familiarity with the clinico-pathologic manifestations and progressive MR imaging features of childhood cerebral X-linked ALD will be helpful in evaluating the affected patients.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

The presence of torcula or sinus in the occipital encephalocele presents a challenge during surgery. However, a detailed study of magnetic resonance image and magnetic resonance venography can aid in preoperative localization of the torcula. Knowing the encephalocele's contents, its relationship with falx cerebri and falx cerebelli, and vigilance during surgery is a sure way to protect neural tissue. Visual Evoked Potential (VEP) may be indicated in torcular encephalocele. Here, authors report two such cases, one presented with ruptured encephalocele with cerebrospinal fluid leak and another case presented six months after birth due to financial constraints. Pertinent literature and management is briefly reviewed.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, seizures, sleep disturbances, characteristic facial features, and happy demeanor. The genetic abnormality of AS has been located on chromosome 15q11-q13. The AS gene(s) is exclusively expressed from the maternal chromosome. Loss of the maternally contributed AS region can occur by deletion, paternal uniparental disomy, imprinting defects, mutation of the ubiquitin-protein ligase (UBE3A) gene, and by yet unidentified mechanisms. Deletion of maternal chromosome accounts for most of the cases of AS with imprinting accounting for 2%-5% of cases. In imprinting inheritance, offsprings of carrier mothers are theoretically at 50% risk of having AS. Familial occurrence of AS has been reported. Here, we highlighted the rare incident of AS in three biological siblings and their neuropsychiatric manifestations as well as different psychosocial aspects.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Intracranial tuberculomas continue to be a serious complication of central nervous system tuberculosis. Multiple central nervous system tuberculoma is commonly associated with human immunodeficiency virus (HIV) infection. The development of intracranial tuberculomas has been thought to be caused by hematogenous spread of tubercle bacilli on the surface of brain parenchyma from the primary site of infection. Here, we describe the case of a 5-year-old male child with severe protein energy malnutrition (Marasmus) having large cervical lymphadenopathy and severe nutritional rickets with deformity at presentation. The child developed convulsions 20 days after initiation of antituberculous drugs, and neuroimaging confirmed multiple miliary tuberculomas of brain as primary etiology for the convulsions.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Valproic acid (VPA) is an antiepileptic drug which is used in the treatment of various seizure disorders including tonic-clonic, myoclonic, absence, partial seizures and psychiatric disorders. VPA is usually well tolerated, but severe adverse effects may occur. Hyperammonaemic encephalopathy (HE) is a rare and potentially fatal complication of VPA treatment. The mechanism by which valproate induces hyperammonemia remains incompletely understood but is likely to relate to the urea cycle. Herein we present two cases with valproate-induced hyperammonemia at therapeutic valproate levels without signs of liver failure and were successfully treated by a single dose of carglumic acid.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Hydatid disease is a parasitic infection affecting the brain in about 2% of the cases. Brain involvement is most commonly observed in children. Here, we report a 13-year-old male patient who presented with headache, nausea, and vomiting. Before cranial computed tomography (CT) was performed, the patient had generalized epileptic seizures. He was disoriented, and had anisocoria with dilatation of the right pupilla. CT showed a cystic lesion of 10-cm diameter in the right temporoparietal region that had caused a shift of the midline structures to the contralateral side; an urgent operation was performed as there were signs of midbrain herniation.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Choroid plexus papilloma (CPP) represents an uncommon pediatric brain tumor with an overall incidence less than 1% of all intracranial tumors. Most of these tumors occur in the lateral ventricles in neonates. Third ventricular location is uncommon, limited to a few case reports. These highly vascular tumors retain the physiological function of choroid plexus and thus lead to overproduction of cerebrospinal fluid (CSF), besides obstructing the CSF pathway. Imaging is fairly sensitive and specific in affording the diagnosis of this tumor. Surgical approaches differ according to the site of tumor and aim is complete removal of tumor. We present an interesting report of an infant who presented to our department for cranial sonography that lead to suspicion of this tumor, later confirmed by other imaging modalities and histopathology.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

A 1-year-old girl with craniopharyngioma required external drainage of 40-50 mL/h of cerebrospinal fluid (CSF) after biopsy and cyst fenestration. She developed CSF ascites following insertion of a ventriculoperitoneal (VP) shunt and a distended painful gallbladder following ventriculogallbladder shunt insertion. Revision to a ventriculoatrial shunt was required. This is the first time a craniopharyngioma has been reported to cause increased CSF production. The potential mechanisms of CSF overproduction and the difficulties managing the large volume of CSF in a young child are discussed.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Pilomyxoid astrocytomas is an uncommon aggressive piloid neoplasm, closely related to pilocytic astrocytomas and typically presents in the very young but can occur in older children and rarely in adults. A 12-years-old male presented with focal seizures, headache and vomiting of 10 days duration. Computed tomogram showed a hypo- to hyperdense and peripherally enhancing, solid-cystic lesion in the left temporal lobe. Histopathological examination revealed a characteristic tumor composed of bipolar cells arranged in dyscohesive sheets, angiocentric pattern in a loose myxoid background, with brisk mitotic activity and foci of necrosis. No Rosenthal fibers or eosinophilic granular bodies were seen. The tumor cells showed strong GFAP and scattered p53 positivity, but were negative for EMA. Ki-67 positivity ranged from 30 to 40%, highest reported till date. The patient was treated with radiotherapy and concurrent temozolamide and the tumor recurred after two years.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Introduction: Children have non specific symptoms after mild head injury (MHI). It is difficult to define indication of CT scan among them. We aimed at identification of predictors of CT scan findings after MHI. Materials and Methods: Children aged ≤12 years with GCS 13-15 after head injury were retrospectively evaluated for their clinical and CT scan findings during January to March 2010. The variables used for detection of abnormal (positive) CT scan were age, gender, cause of injury (road traffic accident, fall, and assault), loss of consciousness, vomiting, ear or nose bleed, seizure, and GCS score. Results: A total of 133 children were included in study. Sixty nine (51.9%) children had abnormal CT findings. There was no statistical difference in patients with normal vs abnormal CT scan for presence of any of the variables evaluated. Conclusion: An abnormal CT scan cannot be reliably ruled out in a child with MHI based on symptoms; hence a policy of liberal CT scan based on clinical acumen is advisable.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

Ambulatory electroencephalogram has been used for differentiating epileptic from nonepileptic events, recording seizure frequency and classification of seizure type. We studied 100 consecutive children prospectively aged 11 days to 16 years that were referred for an ambulatory electroencephalogram to a regional children's hospital. Ambulatory electroencephalogram was clinically useful in contributing to a clinical diagnosis in 71% of children who were referred with a range of clinical questions. A diagnosis of epileptic disorder was confirmed by obtaining an ictal record in 26% and this included 11 children that had previously normal awake and or sleep electroencephalogram. We recommend making a telephone check of the current target event frequency and prioritising those with typical events on most days in order to improve the frequency of recording a typical attack.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Subdural effusion (SDE) in an infant is a rare clinical scenario, which may be secondary to a variety of etiologies. Massive SDE is an extremely rare complication of head injury. It usually runs a self-limiting course. Though neurosurgical intervention is occasionally needed, different methods of surgical procedure for management includes burr-hole alone, burr-holes with subdural drain placement, twist drill craniotomy with drain and even craniotomy. The authors report a rare case of progressive massive SDE, which despite bilateral burr-hole placement and drainage failed and presented with visual deterioration and massive bulge of scalp at burr-hole sites producing rabbit ear sign in a 10 month old infant. Ultimately cystoperitoneal shunt was carried out in a desperate attempt to prevent impending rupture of scalp sutures at sites of previous burr-hole placement. Astonishingly not only complete resolution of hygroma, but visual recovery also took place. Patient is doing well at 6 months following shunt with regaining normal vision and appropriate developmental milestones. A magnetic resonance imaging scan of brain at last follow-up revealed mild ventriculomegaly with subduro-peritoneal shunt in situ and rest of brain was unremarkable. Such cases have not been reported in literature until date.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Primary localized congenital sacrococcygeal neuroblastomas (SCNs) are rare. Diagnosis is based on histological and immunohistochemical evaluation, which is indispensable not only for determining tumor type but also for predicting biological behavior. We report a rare case of congenital SCN in a 9-month-old baby girl. Based on clinical and radiological findings, a provisional diagnosis of solid variant of sacrococcygeal teratoma (SCT) was made. The swelling was entirely excised. On histopathological examination, diagnosis of neuroblastoma, differentiating type in the sacrococcygeal region was considered. On immunohistochemistry, the tumor cells showed immunoreactivity for markers such as neuronspecific enolase, chromogranin-A, synaptophysin, and cyclin D1. S-100 showed positive cytoplasmic immunoreactivity. CD99, leucocyte common antigen, PanCK, and epidermal growth factor receptor were nonreactive. Cyclin D1 showed strong nuclear immunoreactivity. p53 was negative and Ki67 labelling index was less than 1%. The immunohistochemical markers studied, confirmed the histopathological diagnosis, and the cell proliferative index markers indicated it to be a very low grade lesion. Postoperatively, the child is disease-free and has achieved normal milestones for age for period of 6 months.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Intramedullary spinal cord abscess in children is rare and holocord abscess is rarer. An 18-month-old girl presented with rapidly progressive paraplegia with fever for 2 months. The patient had complete flaccid paraplegia with absent sensation below D4 level. There was very small dermal sinus discharging pus in the lower lumbar region. Magnetic resonance imaging showed evidence of extensive multiloculated intramedullary abscess extending from D4 to L5 with cord edema upto cervical level. Laminotomy, excision of the dermal sinus and myelotomy, and evacuation of intramedullary abscess was performed. Escherichia coli and Pseudomonas were grown on culture. The child was treated with long-term parenteral antibiotics and started showing neurological improvement. Holocord abscess secondary to congenital dermal sinus is extremely rare and this is only the fourth report of such an instance.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

Lipomyelomeningocele, a closed neural tube defect, usually occurs in lumbosacral area as a single lesion but can be associated with other spinal dysraphism. We report an infant with a very rare presentation of tandem lumbosacral lipomyelomeningoceles, thick filum terminale and split cord malformation.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

This study reports two children, including a 2-month-old infant, harboring giant cavernous hemangiomas (GCH) in the supratentorial compartment, causing raised intracranial pressure and focal deficits. Relevant demographic details, clinical presentation, and radiological findings of GCH are discussed in light of tumefactive presentation. Differential diagnoses of such radiological findings are elaborated.

[ABSTRACT]  [FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub] [CITATIONS]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]

[FULL TEXT]  [PDF]  [Mobile Full text]  [EPub]  [PubMed]