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ADRENOLEUCODYSTROPHY PRESENTING WITH STATUS EPILEPTICUS

CASE OF A CHILD WITH ADRENOLEUCODYSTROPHY PRESENTING WITH STATUS EPILEPTICUS An 4 years old male child from Kolar was admitted into Paediatric intensive care unit of department of pediatrics, vamshodaya hospital with STATUS EPILEPTICUS since an hour. Child was admitted with history of seizures at 1 ½ years of age and 2 months back at NIMHANS Bangalore and was diagnosed with Adrenoleucodystrophy. His mother is noticing deterioration of childs memory , vision and hearing over last 1 year. His family history was nothing contributory. His physical examination revealed pigmentation of skin, vital signs including blood pressure was within normal limit. Ophthalmological examination revealed bilateral optic atrophy. Neurological examination revealed normal muscle bulk, increased tone, reduced muscle power, exaggerated jerks and bilateral extensor plantar response. Gait could not be evaluated due to ongoing status epilepticus. All routine investigations revealed normal findings. MRI of brain showed bilateral, symmetric hyper intense signal change in T2 and FLAIR weighted images in subcortical white matter of both parieto-occipital regions which is compatible with Adrenoleukodystrophy. His random blood sugar and serum electrolyte were within normal limit, but serum Adrenocorticotropic hormone (ACTH) level was very high, >1250 pg/ml (normal 5 – 65 pg/ml). serum cortisol level was normal, 7.1 microgm/dl (normal 5 – 25 microgm/dl). Ultrasonogram of abdomen to see adrenal gland was also normal. Magnetic Resonance Spectroscopy (MRS) was advised. Treatment : Child was intubated and taken on mechanical ventilation , was given multiple AED and midazolam infusion , once seizure free for 48 hours child was slowly weaned from AED and was extubated. Stress dose of hydrocortisone was given. Now child is on two Antiepileptic drugs and oral hydrocortisone , on follow up. Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in plasma, various tissues of body and central nervous system. It causes demyelination and adrenocortical insufficiency. High levels of very long chain fatty acids are found in tissues and body fluids, resulting from their impaired β-oxidation in the peroxisomes. Most common form of ALD is an X-linked disorder with various presentations which is caused by mutations in the ABCD1 gene located on Xq28. Phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis, as attention deficit and/or hyperactivity disorder in boys. Most common clinical picture is of a degenerative neurologic disorder appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait and death occur within a few years. Many patients have evidence of adrenal insufficiency at the time of neurologic presentation. Hydrocortisone and mineralocorticoid are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses .

REGARDS DEPARTMENT OF PAEDIATRICS VAMSHODAYA HOSPITAL

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