Rafat J. Sayed

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Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically(More)
The syndrome of acute flaccid paralysis (AFP) is a common medical emergency in children. In the era of poliomyelitis eradication, the common causes of AFP include Guillain-Barré syndrome (GBS), transverse myelitis and traumatic neuritis. However, many common diseases can uncommonly present as AFP and some uncommon diseases may also masquerade like it.(More)
Eosinophilc meningitis is commonly associated with Angiostrongylus and Gnathostoma infection and has largely been reported from Thailand. We present the first case report of neurognathostomaisis in a pediatric patient from India. A 3.5 year old girl presented with fever, parasthesis, behavioral changes followed by flaccid quadriparesis. Neuroimaging showed(More)
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical(More)
BACKGROUND Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy. CASE CHARACTERISTICS 10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia,(More)
Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be(More)
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