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[Primary hypoparathyroidism with basal ganglia calcification: report of a case]
Abstract:
A 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
Insights
This study highlights a pediatric case of hypoparathyroidism presenting with tetany and basal ganglia calcification. Early diagnosis and treatment of hypoparathyroidism can prevent neurological complications and developmental delays.
Area of Science:
- Pediatric Endocrinology
- Neurology
- Metabolic Disorders
Background:
- Hypoparathyroidism is a rare endocrine disorder characterized by insufficient parathyroid hormone production.
- This condition leads to hypocalcemia and hyperphosphatemia, potentially causing neurological and developmental issues.
- Recurrent tetany and carpopedal spasms in children warrant thorough investigation for underlying metabolic causes.
Observation:
- A 3-year-old boy presented with recurrent tetany and carpopedal spasms, associated with mild psychomotor retardation and a positive Chvostek sign.
- Laboratory results revealed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels.
- Neuroimaging showed symmetrical basal ganglia calcification, a known complication of chronic hypocalcemia.
Findings:
- The clinical presentation and biochemical profile were consistent with primary hypoparathyroidism.
- The patient experienced neurological symptoms including tetany and abnormal EEG findings.
- Basal ganglia calcification was identified, though its precise pathogenic mechanism in this context remains under investigation.
Implications:
- Early diagnosis and prompt treatment of hypoparathyroidism with calcium and vitamin D supplementation are crucial.
- Timely intervention can reverse neurological deficits, including movement disorders and mental retardation.
- Preventing chronic hypocalcemia may avert long-term complications like intracranial calcifications, cataracts, and permanent developmental impairment.