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1.  A case of hereditary sensory autonomic neuropathy type IV 
Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal.
PMCID: PMC3345592  PMID: 22566729
Hereditary sensory autonomic neuropathy; insensitivity to pain; self-mutilation
2.  Glutaric aciduria type I: A treatable neurometabolic disorder 
Background and Objectives:
Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroimaging findings and outcome of patients with GA-I.
Study Design:
The present study was a retrospective study.
Materials and Methods:
Retrospective review of charts of patients with a diagnosis of GA-I was carried out from March 2008 to April 2010. The clinical, laboratory and neuroimaging findings were extracted in a predesigned proforma and the data was analyzed.
Eleven cases were found to have GA-1. Clinical presentation was quite varied. Follow-up of patients revealed that one patient with macrocephaly as the only clinical finding was developmentally normal. One patient with encephalitis-like illness steadily improved and started walking at 2 years. Two patients were bed ridden and had severe dystonia. One patient died during follow-up. The remaining six patients had dystonia and other abnormal movements, but had attained sitting without support and were not ambulatory.
GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given.
PMCID: PMC3299068  PMID: 22412270
Encephalitis; glutaric aciduria type 1; macrocephaly; neuroimaging
4.  Central nervous system inflammatory demyelinating disorders of childhood 
Background and Objectives:
Childhood Central Nervous System (CNS) inflammatory demyelinating disorders (CIDD) are being diagnosed more commonly now. There is ambiguity in the use of different terms in relation to CIDD. Recently, consensus definitions have been proposed so that there is uniformity in studies across the world. The prevalence of these disorders and the spectrum varies from place to place. This study was undertaken to study the clinico-radiological profile and outcome of children with CIDD using the recent consensus definition.
Study design:
Prospective descriptive study.
Materials and Methods:
All patients admitted in pediatric ward and pediatric intensive care with neurological symptoms and signs suggestive of CNS inflammatory demyelinating disorders from July 2007–August 2008 were enrolled. The details of clinical presentation, neuroimaging findings, laboratory results, treatment, and outcome were noted and analyzed.
Fifteen patients (11 with acute disseminated encephalomyelitis and 4 with clinically isolated syndrome) were diagnosed with CIDD. Clinical presentation was quite varied. Eight patients recovered completely; 4 cases were left with sequelae and 3 patients expired. There were no cases of multiple sclerosis or neuromyelitis optica.
CNS inflammatory demyelinating disorders are common illnesses in developing countries because of recurrent infections. Even the spectrum of CIDD is different. Neuroimaging in the form of magnetic resonance imaging is essential for diagnosis.
PMCID: PMC3021933  PMID: 21264138
Acute disseminated encephalomyelitis; clinically isolated syndrome; CNS inflammatory demyelinating disorder; multiple sclerosis; neuromyelitis optica

Results 1-4 (4)