Open AccessHypocalcemic recurrent generalized seizures with bilateral basal ganglia and frontal calcification as the initial manifestation of Albright’s hereditary osteodystrophy in a child: A pictorial and video-graphic representations
Author(s) -
Akhilesh Kumar Nunavath,
Sandhya Manorenj,
Srikant Jawalker,
Bushra Naaz
Publication year - 2019
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_86_19
Subject(s) - medicine , hypocalcaemia , pseudohypoparathyroidism , brachydactyly , osteodystrophy , short stature , hyperphosphatemia , basal (medicine) , endocrinology , pediatrics , parathyroid hormone , insulin , calcium
Albright hereditary osteodystrophy (AHO) is a hereditary metabolic disorder that presents with seizure secondary to hypocalcaemia. A careful phenotypic assessment of patients presenting with seizure clues to the diagnosis of AHO. The characteristic features are short stature,obesity and brachydactyly.Pseudohypoparathyroidism (PHP) is observed in patients with AHO and is characterized by inability of the body to respond appropriately to parathormone, mainly characterized by hypocalcaemia, increased serum parathormone concentration, insensitivity to the biological activity of parathormone, and hyperphosphatemia. In this study, we report a 14-year-old boy with distinctive phenotype of AHO, oral manifestations, and signs of tetany with PHP presenting as recurrent generalized seizure.