X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal beta-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: Childhood Cerebral (CCALD),  Adolescent Cerebral (AdolCALD),  Adult Cerebral (ACALD),  Adreno-MyeloNeuropathy (AMN),  Addison-only (AO), and Presymptomatic (PALD).  The distribution of phenotypes varies in different countries. We report the disorder where the diagnosis was made on the basis of clinical spectrum, biochemical analysis and genetic testing.Two siblings presented with skin hyperpigmentation, weakness and nausea, both were diagnosed with Addison's disease and Hypothyroidism.  The younger brother later had generalized tonic clonic seizures, abnormal behavior, difficulty in walking, imbalance, intermittent vomiting and difficulty in swallowing. MRI-Brain was suggestive of Adreno-leukodystrophy. The diagnosis was confirmed on genetic testing of ABCD gene mutation. Key words : Childhood Cerebral (CCALD), Adolescent Cerebral (AdolCALD), Adult Cerebral (ACALD), AdrenoMyelo-Neuropathy (AMN), Addison-only (AO), and Presymptomatic (PALD).

 

Keywords: Childhood Cerebral (CCALD), Adolescent Cerebral (AdolCALD), Adult Cerebral (ACALD), AdrenoMyelo-Neuropathy (AMN), Addison-only (AO), Presymptomatic (PALD).