Browsing by Author "Koirala, Deepak Prasad"
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Publication Doss Porphyria (δ-Aminolevulinic Acid Dehydratase Porphyria) Presenting with Acute Onset Flaccid Paralysis(Nepal Paediatric Society (JNPS), 2015) Singh, Sandip Kumar; Gauchan, Eva; Koirala, Deepak Prasad; Rao, KSAbstract: δ–Aminolevulinic acid dehydratase porphyria is an autosomal recessive disorder of heme synthesis resulting from deficiency of δ-aminolevulinic acid dehydratase (ALAD). Patients present with fatal neurovisceral manifestations and motor neuropathy. Here we report a patient with rapidly progressive flaccid tetraplegia with respiratory and bulbar paralysis. The importance of early diagnosis, prompt treatment and screening of relatives is stressed.Publication Eyelid Coloboma in a Newborn with VACTERL Association(Nepal Paediatric Society (JNPS), 2017) Timilsina, Mukunda; Gauchan, Eva; Koirala, Deepak PrasadAbstract: VACTERL is used to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). This is a case report of a neonate delivered to Manipal Teaching Hospital, Pokhara with features suggestive of VACTERL association.