Background: Abdominal epilepsy (AE) is an uncommon cause for chronic recurrent abdominal pain in children and adults. It is characterized by paroxysmal episode of abdominal pain, diverse abdominal complaints, definite electroencephalogram (EEG) abnormalities and favorable response to the introduction of anti-epileptic drugs (AED). We studied 150 children with chronic recurrent abdominal pain and after exclusion of more common etiologies for the presenting complaints; workup proceeded with an EEG. We found 111 (74%) children with an abnormal EEG and 39 (26%) children with normal EEG. All children were subjected to AED (Oxcarbazepine) and 139 (92%) children responded to AED out of which 111 (74%) children had an abnormal EEG and 27 (18%) had a normal EEG. On further follow-up the patients were symptom free, which helped us to confirm the clinical diagnosis. Context: Recurrent chronic abdominal pain is a common problem encountered by pediatricians. Variety of investigations are done to come to a diagnosis but a cause is rarely found. In such children diagnosis of AE should be considered and an EEG will confirm the diagnosis and treated with AED. Aims: To find the incidence of AE in children presenting with chronic recurrent abdominal pain and to correlate EEG findings and their clinical response to empirical AEDs in both cases and control. Settings and Design: Krishna Institute of Medical Sciences University, Karad, Maharashtra, India. Prospective analytical study. Materials and Methods: A total of 150 children with chronic recurrent abdominal pain were studied by investigations to rule out common causes of abdominal pain and an EEG. All children were then started with AED oxycarbamezepine and their response to the treatment was noted. Results: 111 (74%) of the total 150 children showed a positive EEG change suggestive of epileptogenic activity and of which 75 (67.56%) were females and 36 (32.43%) were male, majority of children were in the age of group of 9-12 years. Temporal wave discharges were 39 (35.13%) of the total abnormal EEG's. All the children were started on AEDs and those with abnormal EEG showed 100% response to treatment while 27 (18%) children with normal EEG also responded to treatment. Twelve (8%) children did not have any improvement in symptoms. Conclusions: A diagnosis of AE must be considered in children with chronic recurrent abdominal pain, especially in those with suggestive history, and an EEG can save a child from lot of unnecessary investigations and suffering.

Split cord malformations (SCM) with a dorsally located bony spur are a very rare entity. The authors report a series of four such cases. The literature is reviewed regarding the pathogenesis and management of this uncommon variant of SCM. The presenting features include - scoliosis with motor and autonomic dysfunction (n = 1), scoliosis with cutaneous patch (n = 1), hypertrichotic area (n = 1), and motor deficits alone (n = 1). The location of spur was thoracic and lumbar in two patients (50%) each. Low-lying conus was present in three patients. Long segment syrinx was present in one patient. With respect to the bony anomalies, two patients had a hypertrophied posterior arch (HPA) and one patient had a dysraphic spine. All patients underwent surgical excision of the spur with detethering, if a low-lying conus was present. Two patients developed transient worsening of the neurological status after surgery which recovered at the time of the last follow-up; in both these patients, there was a HPA and a low-lying conus. Surgical excision of the spur with detethering of filum, in cases of low-lying conus, is the treatment of choice. Risk of post-operative worsening of the neurological status is increased in cases in which there is concomitant presence of HPA.

Objective: Migraine is a common neurological disorder in childhood and adolescence. Topiramate is a new anticonvulsant drug, recently being used in migraine prophylaxis in adults, although it is not approved by the Food and Drug Administration for prevention of pediatric migraine. The present study was planned and performed to evaluate the efficacy of low-dose topiramate in pediatric migraine prophylaxis. Materials and Methods: A prospective study, including 60 patients with migraine headaches was performed for a period of two months. The patients were randomly divided into two treatment groups - treated by topiramate < 2 mg/kg/day and > 2 mg/kg/day. All the patients were evaluated at 0, 4, and 8 weeks of the study for the clinical response. Results: The patients receiving topiramate < 2 mg/kg/day (mean dose of 1.2 ± 0.7 mg/kg/day) showed a reduction in the mean (±SD) of migraine frequency from 6.2 (±2.4) to 3.0 (±1.8) episodes per month, headache intensity from 7.2 (±1.95) to 3.7 (±1.8) based on the Visual Analog Scale, and headache duration from 5.4 (±2.1) to 2.2 (±1.3) h. In the patients treated with topiramate > 2 mg/kg/day (mean dose of 2.4 ± 0.5 mg/kg/day), the mean (±SD) of monthly headache frequency reduced from 6.9 (±2.1) to 3.24 (±1.2) per month, intensity from 7.11 (±1.4) to 3.14 (±2.41), and headache duration from 5.2 (±2.4) to 1.8 (±1.2) h, at the end of follow-up (P > 0.05). The most common side effects of topiramate were paresthesias (five patients), anorexia (four patients), drowsiness (four patients). Conclusion: The results of this study demonstrated that low-dose of topiramate (<2 mg/kg/day) is effective, well-tolerated, safe, and suggested as an alternative prophylactic treatment for pediatric migraine.

Objective: Assess triplet repeat expansion (CTG) _n at the 'dystrophia-myotonica protein kinase' (DMPK) locus in muscular myopathies to elucidate its role in myopathic symptoms and enable genetic counseling and prenatal diagnosis in families. Methods and Results: Individuals with symptoms of myopathy, hypotonia and controls selected randomly from the population were evaluated for triplet repeat expansion of (CTG) _n repeats in the 3'untranslated region (UTR) of DMPK gene, the causative mutation in myotonic dystrophy (DM). DNA was isolated from peripheral blood of 40 individuals; they presented symptoms of muscle myopathy ( n = 11), muscle hypotonia ( n = 4), members of their families ( n = 5) and control individuals from random population ( n = 20). Molecular analysis of genomic DNA by polymerase chain reaction (PCR) using primers specific for the DMPK gene encompassing the triplet repeat expansion, showed that all controls ( n = 20) gave a 2.1 kb band indicating normal triplet repeat number. Three out of 11 cases (two clinically diagnosed DM and one muscular dystrophy) had an expansion of the (CTG) _n repeat in the range of 1000-2100 repeats corresponding to the repeat number in cases of severe DM. Other two of these 11 cases, showed a mild expansion of ~ 66 repeats. Three samples, which included two cases of hypotonia and the father of a subject with muscular dystrophy, also gave a similar repeat expansion (~66 repeats). Conclusion: Results suggest a role of (CTG) _n expansion at the DMPK locus in unexplained hypotonias and muscular myopathies other than DM. This calls for screening of the triplet repeat expansion at the DMPK locus in cases of idiopathic myopathies and hypotonia.

GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme β-galactosidase, resulting in progressive neural and visceral accumulation of GM1gangliosides. Coarse facial features, bilateral cherry red spots, and dysostosis multiplex are important clue to diagnose this condition. We describe a case of GM1gangliosidosis with dysostosis multiplex and characteristic magnetic resonance imaging findings.

Neurocristic cutaneous hamartoma of the scalp, a rare entity, may be either congenital or acquired. The former must be distinguished from other forms of congenital nodular and plaque-like lesions such as giant congenital nevi, common and cellular blue nevi, and melanoma. We describe the clinicopathologic features of an example occurring in a 2-month-old girl presenting with a large parietooccipital swelling. The literature is reviewed.

Acalvaria is described as a rare congenital malformation in a 1-month-old female baby who presented with classical clinical features of soft, lax skull as a result of absent skull bones and associated muscles. Acalvaria is usually a fatal anomaly and is rarely discussed in English literature. Thus, we herein report a living case of acalvaria along with a review of the literature.

Neurenteric cysts are rare, benign, endodermally derived tumors of the central nervous system. Intracranial neurenteric cysts are rare with posterior fossa being the most common location among them. Neurenteric cyst of the craniocervical region is very rare. Authors report a rare case of neurenteric cyst located in the ventral cervicomedullary region. The pertinent literature is reviewed regarding this uncommon entity.

We report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity. She in addition had an asymptomatic cervical syrinx and vitiligo. We discuss the reasons for this unusual constellation of symptomatology present in our case.

The involvement of the central nervous system (CNS) in familial hemophagocytic lymphohistiocytosis (FHL) has known to be limited to the brain, brain stem, and cerebellum. Herein, we report an 11-year-old boy who presented with neurological symptoms and was diagnosed as FHL by molecular diagnosis. The hemophagocytic lesions in the CNS were shown to extend to the thoracal level of spinal cord which completely disappeared after the completion of hemophagocytic lymphohistiocytosis-2004 protocol.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory distress secondary to diaphragmatic weakness and progressive distal weakness. Sensory and autonomic dysfunctions sometimes accompany the motor weakness. This report describes a male infant with genetically confirmed SMARD1 presenting with onset of disease in the first two weeks of life with respiratory compromise and urinary retention, which has not been reported before and adds to the phenotypic variability of SMARD 1.

Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion mutation. This case demonstrates the importance of molecular genetic analysis in cases of multiple CCM.

This study aims to report a rare case of precocious puberty (PP) due to a human chorionic gonadotropin (hCG)-producing germinoma located in the suprasellar region. A 10-year-old male patient presented with sexual precocity, headache, drowsiness, loss of appetite, and papilledema. Significant acceleration of bone age in relation to chronological age, high serum total testosterone levels, and hypopituitarism (unresponsiveness to stimulation test) were observed. Magnetic resonance imaging (MRI) of the brain showed a large suprasellar tumor and triventricular dilatation. High hCG levels were found in both blood and cerebrospinal fluid. Hormone replacement therapy and transcranial surgery associated with radiotherapy were performed, with complete regression of sexual characteristics and normal laboratory tests post-operatively. Clinical and laboratory findings, in addition to MRI scans, led to the diagnosis of an hCG-producing tumor and PP, which represents a rare report in the literature.

Lateral intraventricular tumors are uncommon. They grow linearly rather than exponentially and hence are slow-growing lesions without causing mass effects and hydrocephalus. We report a rare case of large bulky right intraventricular epidermoid tumor in a child. This tumor was associated with mass effect on the surrounding structures and hydrocephalus.

Central nervous system leukemia may present in different ways. However, intraparenchymal mass is extremely rare in childhood leukemia. Herein, we report a boy who presented with right hemiparesis and anisocoria 1 year after the cessation of the chemotherapy protocol for acute lymphoblastic leukemia. Cranial imaging demonstrated an extensive mass located in the anterior white matter of left frontal lobe, and cerebrospinal fluid examination revealed concomitant lymphoblasts. Immunohistochemical staining of the biopsy material showed neoplastic cells with positive CD10 and TdT. Complete remission was achieved with chemotherapy alone for a duration of 2 years.

Chondromyxoid fibroma (CMF) is the least common benign tumor of the cartilaginous origin. It is very unusual to find these tumors in the skull bones. We report one such case involving the temporal bone. Till date, only nine such cases including this patient, involving the temporal bone have been reported to the best of our knowledge. Grant Medical College and Sir J.J Group of Hospitals, Byculla, Mumbai, Maharashtra, India. A 12-year-old female patient presented with a history of headache associated with left earache of 1 month duration. This was followed by swelling over the left preauricular region 15 days later. Imaging was suggestive of an expansile lesion involving the squamous part of the left temporal bone with calcifications suggestive of a benign chondroid lesion. The patient was operated upon with left temporal incision and complete excision of the lesion. The patient had relief from headache, earache and swelling, with no evidence of new neurological deficit in the post-operative period. CMF of the skull bone is an extremely rare tumor. Differential diagnosis should be kept in mind, especially in cases of calcified lesions and includes chordoma, chondroid chondroma, and low-grade myxoid chondrosarcoma. En-bloc complete excision should be the aim to achieve cure.

Superficial siderosis of the central nervous system results from deposition of hemosiderin in the subpial layers of the brain and spinal cord. Patients usually present after 40 years of age with progressive ataxia and sensorineural hearing impairment. We present the case of a twelve-year-old boy who had a surgery of the posterior fossa at the age of two years and then developed recurrent headaches, instability of gait, and hearing deficit at around ten years of age. Clinical examination revealed progressive ataxia and mild sensorineural hearing loss. He also had infrequent seizures with mild electroencephalographic abnormality. His serial magnetic resonance imaging (MRIs) showed a progressive deposition of hemosiderin in the cerebellar folia and around the brainstem, confirming a diagnosis of superficial siderosis. This case report draws attention to this rare condition, usually seen in adults, even though rarely it can be seen in children as a chronic sequela of surgery of the posterior fossa.

Sacrococcygeal location of myxopapillary ependymoma (MPE) is uncommon. Local recurrence and metastases are on record inspite of its benign characteristics. We report a rare case of sacrococcygeal MPE in an 11-month-old female child who showed typical myxopapillary ependymal histology along with anaplastic ependymal component. Ki-67 labeling index in the myxopapillary component was 4-5% and in the anaplastic component was 70%. Six weeks after gross total resection of the tumor, the child presented with local recurrence and metastasis in the right inguinal lymph nodes and was treated with chemotherapy. The present case of sacrococcygeal MPE with anaplastic ependymoma component is the second case on record in the medical literature, and the first case without any syndromic features. Metastasis in this case can be explained because of the anaplastic component, with mitotic count of 5-6/high power field and high Ki-67 labeling index.

Posterior reversible encephalopathy syndrome (PRES) is characterized by headache, nausea, vomiting, seizures and visual disturbances. PRES has been usually associated with hypertension, chronic renal disease, malignancy and chemotherapeutic agents. We report the association of PRES with Autoimmune lymphoproliferative syndrome, which to our best knowledge has not been reported before.

Birth injury is defined as an impairment of a newborn's body function or structure due to adverse influences that occurred at birth. Phrenic nerve palsy may result from birth trauma during a traumatic neonatal delivery from a stretch injury due to lateral hyperextension of the neck at birth. This could be a rare cause of respiratory distress in the newborn period with irregular respiration. Respiratory distress due to phrenic nerve damage leading to paralysis of the ipsilateral diaphragm may require continuous positive airway pressure or mechanical ventilation and if unresponsive, surgical plication of diaphragm. Herein, we report a case of phrenic nerve palsy in a newborn presenting with respiratory distress.

Among the various complications associated with ventriculoperitoneal shunt (VPS) surgery, migration of the peritoneal catheter is one of the rarest complications. We report two cases of spontaneous extrusion of the peritoneal portion of the VPS through the intact abdominal wall at an area unrelated to the surgical incision. Both were conscious and had no neurological deficits. There were no signs of infection. The peritoneal end of the shunt was removed through the abdomen. Shunt revision was performed. The patients were discharged 8 days after the revision without any complications. At 6-month follow-up, both of them are doing well. Possible mechanisms of abdominal wall perforation are discussed. Pulling the extruded peritoneal end through abdominal wall decreases the possibility of infection and is probably the best way of management.

Scorpion sting is common in villages, and is an important public health problem in India. The clinical symptoms of envenomation by scorpion sting are by sympathetic and parasympathetic stimulation, causing a variety of symptoms. The leading causes of death are cardiac dysfunction and pulmonary edema. We present herein a case of scorpion sting in a 9-year-old boy who developed pulmonary edema and gradually developed cytotoxic cerebral edema with infarct leading to motor aphasia with upper motor neuron facial palsy.