An unusual case of neonatal seizures as manifestation of asymptomatic maternal hypoparathyroidism

Neonatal hypoparathyroidism is one of the rare causes of hypocalcaemia. Several cases of neonatal hypoparathyroidism secondary to maternal hyperparathyroidism have been reported. In this case report, we have a term neonate with normal birth history who presented with late onset hypocalcemic seizures. After excluding polyendocrinopathies and related syndromes, hypocalcaemia seizures were secondary to maternal asymptomatic hypoparathyroidism. Since this is one variety of unusual case of maternal and fetal hypoparathyroidism, further testing was mandatory to confirm familial origin. This focuses on the need for every clinician to test maternal metabolic status in case of neonatal manifestations.

Hypercalcaemia during pregnancy: Review of maternal and fetal complications, investigations, and management

Introduction Asymptomatic mild primary hyperparathyroidism is increasingly being identified during pregnancy. Recent studies have demonstrated inconsistent findings with regard to pregnancy complications and the need for surgical intervention during pregnancy. Method A retrospective audit of outcomes of pregnancies complicated by hypercalcaemia over a 15-year period was performed. Results Twenty-nine pregnancies to 26 women with hypercalcaemia were identified, corresponding to 37 cases per 100,000 deliveries. Hypercalcaemia was due to primary hyperparathyroidism in 90% of cases, with mean serum calcium of 2.89 mmol/l and mean ionised calcium 1.43 mmol/l. Four women underwent successful neck exploration during pregnancy. Pregnancy complications were limited to three cases of pre-eclampsia and one case of symptomatic neonatal hypoparathyroidism. Conclusion Close observation without surgical intervention would seem reasonable in women with mild hypercalcaemia during pregnancy.

Hypomagnesemia due to two novel TRPM6 mutations

Although most hypocalcemia with hypomagenesemia in the neonatal period is due to transient neonatal hypoparathyroidism, magnesium channel defects should also be considered.We report a case of persistent hypomagnesemia in an 8-day-old Hispanic male who presented with generalized seizures. He was initially found to have hypomagnesemia, hypocalcemia, hyperphosphatemia and normal parathyroid hormone. Serum calcium normalized with administration of calcitriol and calcium carbonate. Serum magnesium improved with oral magnesium sulfate. However, 1 week after magnesium was discontinued, serum magnesium declined to 0.5 mg/dL. Magnesium supplementation was immediately restarted, and periodic seizure activity resolved after serum magnesium concentration was maintained above 0.9 mg/dL. The child was eventually weaned off oral calcium and calcitriol with persistent normocalemia. However, supraphysiologic oral magnesium doses were necessary to prevent seizures and maintain serum magnesium at the low limit of normal.As his clinical presentation suggested primary renal magnesium wastage,Two novel

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11

Objective: Clinical features associated with microdeletion of chromosome 22q11 (del(22)(q11)) are highly variable. Increased awareness of this condition is needed among specialists such as endocrinologists to reduce diagnostic delay and improve clinical care. The purpose of this study was to describe the phenotype of patients with del(22)(q11), focusing on parathyroid gland dysfunction. Design and methods: Charts of 19 patients, including one kindred of three, known to have del(22)(q11) diagnosed by fluorescence in situ hybridization (FISH) were reviewed from the register of the department of Medical Genetics. Major clinical features including hypoparathyroidism phenotype were collected. Results: Parathyroid dysfunction was present in 8 out of 16 patients (50%). Six patients were diagnosed with overt hypoparathyroidism. Hypocalcemia manifested as laryngeal stridor within the first days of life (n=3), seizures in infancy (n=1) and adolescence (n=2). The connection between hypoparathyroidism and diagnosis of del(22)(q11) was belated at the median age of 18 years. One patient had presented with transient neonatal hypoparathyroidism, and one patient had latent hypoparathyroidism. Within the kindred family, the phenotype variability including that of parathyroid dysfunction was as marked as between unrelated individuals. Standard karyotype failed to detect the deletion in 15 out of 19 cases. Conclusions: Abnormal parathyroid function in the del(22)(q11) ranges from severe neonatal hypocalcemia to latent hypoparathyroidism. Del(22)(q11) should be considered as a potential cause of hypocalcemia even in young adult. When suspected, the diagnosis requires investigation by FISH. Furthermore, long-term calcemia follow-up is needed in normocalcemic patients with del(22)(q11) because of the possible evolution to hypocalcemic hypoparathyroidism.