Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report.

Rationale: Polymerase subunit gamma (POLG) is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, which is involved in the replication of mitochondrial DNA. Mutations in these genes are associated with a range of clinical syndromes characterized by secondary mtDNA defect including mtDNA mutation and mtDNA depletion which may culminate in complete failure of energy production (respiratory changes complex 1 defect) as in this case.

Patient Concerns: We herein report a full term Saudi female neonate born to consanguineous parents, who was noticed immediately after birth to have severe hypotonia, poor respiratory effort, and dysmorphic features.

Idiopathic hypoparathyroidism with extensive intracranial calcification in children: First report from Saudi Arabia.

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.