Browsing by Author "Thapa, LJ"
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Publication Acute Intermittent Porphyria with SIADH and Fluctuating Dysautonomia(Kathmandu University, 2012) Nabin, A; Thapa, LJ; Paudel, R; Rana, PVSABSTRACT Three cases of acute intermittent porphyria are reported. While in first case severe pain in abdomen with intermittent exacerbation was the only presentation, the second patient presented as accelerated hypertension and acute abdominal crises in whom the clinical course was characterized by development of deep coma due to inappropriate secretion of antidiuretic hormone before she made complete recovery. The third patient, initially manifested as acute encephalitic syndrome. After initial improvement, she developed features of acute intermittent porphyria i.e. acute abdomen, neuropsychiatric symptoms, and rapidly progressing acute motor neuropathy leading to respiratory and bulbar paralysis. In addition, she developed severe and fluctuating dysautonomia leading to cardiac arrest and fatal termination. The importance of early diagnosis, recognition of autonomic disturbances, prompt treatment and counseling for avoidance of precipitating factors is stressed. KEY WORDS Acute intermittent porphyria (AIP), Autonomic neuropathy, Dysautonomia, d-aminolevulinic acid (d-ALA)’ Inappropriate secretion of antiduretic hormone (SIADH, Hematin, Porphobilinogen (PBG)Publication Association of Seizure, Facial Dysmorphism, Congenital Umbilical Hernia and Undescended Testes(Kathmandu University, 2012) Thapa, LJ; Pokharel, BR; Paudel, R; Rana, PVSABSTRACT With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI findings may help in confirming the diagnosis. A nine years old boy is presented where early onset seizure, mental retardation, delayed development of speech, presence of facial dysmorphism,, umbilical hernia and undescended testes suggested possibility of chromosomal 6q deletion disorder. Important deletion disorders are discussed and importance of clinical examination is stressed. KEY WORDS Chromosome deletion, Cryptorchidism, Facial dysmorphism, Seizures, Umbilical hernia