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 CASE REPORT
Year : 2019  |  Volume : 14  |  Issue : 4  |  Page : 232-235

Hypocalcemic 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


Department of Neurology, Princess Esra Hospital (PEH), Deccan College of Medical Sciences (DCMS), Hyderabad, Telangana, India

Correspondence Address:
Prof. Sandhya Manorenj
Department of Neurology, Princess Esra Hospital (PEH), Deccan College of Medical Sciences (DCMS), Hyderabad.
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jpn.JPN_86_19

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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.






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