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Idiopathic hypoparathyroidism with extensive intracranial calcification in children: First report from Saudi Arabia
Naglaa M Kamal1, Hamed A Alghamdi, Abdulrahman A Halabi
1aPediatric Hepatologist, Faculty of Medicine, Cairo University, Cairo, Egypt. Pediatric Hepatologist, Alhada Armed Forces Hospital, Taif, KSA bPediatric endocrinologist, Armed Forces Hospitals of Taif Region, Taif, KSA cPediatric neonatologist, Alhada Armed Forces Hospital, Taif, KSA dPediatric endocrinologist, Alhada Armed Forces Hospital, Taif, KSA ePediatrics, Children Hospital, Taif, KSA fPediatric Allergist and immunologist Alhada Armed Forces Hospital, Taif, KSA gPediatric Nephrologist, College of Medicine, Taif University, Taif, KSA hMedical intern, Taif University, Taif, KSA iPediatric Hematologist and Oncologist, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Rationale:
Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases worldwide.
Patient Concerns:
An 11-year-old Saudi male child presented with tetany with otherwise normal neurological and other body system examination diagnoses severe hypocalcemia for differential diagnosis.
Interventions:
Further investigations revealed hyperphosphatemia and undetectable serum intact parathyroid hormone. Brain computed tomography revealed BG and extensive brain calcifications. He has no dysmorphic features, vitiligo, mucocuataneous manifestations, or hair loss. He had normal hemoglobin, electroencephalogram, and skeletal survey, with negative autoantibodies to alpha and omega interferons and negative genetic testing for Glial Cell Missing 2 (GCM2) and calcium-sensing receptors (CaSRs) excluding known causes of hypoparathyroidism.
Outcomes:
This case presents a rare entity of idiopathic hypoparathyroidism with extensive intracranial calcification, not only in BG but also outside the extrapyramidal system with normal mentality, development, pubertal achievement, and neurological examination. To our knowledge, this is the first report from Saudi Arabia in pediatrics.
Lessons:
Idiopathic hypoparathyroidism is a diagnosis of exclusion after ruling out all known causes of hypoparathyroidism. It is associated with BG calcifications, but extensive intracranial calcifications outside the BG are extremely rare.