Bone Abstracts

Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disorder caused by mutations in the gene GNAS. It is characterized by multi-hormone resistance, obesity, cognitive impairment and the Albright hereditary osteodystrophy phenotype. A recent study found a 4.4-fold increase risk of sleep apnea in children with PHP1A compared with similarly obese children.

Objective: To describe a case of morbid obesity and respiratory failure in a child with PHP1A.

Presenting problem: A 4-year-old boy was admitted to the Emergency department due to respiratory failure and somnolence. He was diagnosed during infancy with PHP1A and was treated with levothyroxine, calcium carbonate, alfacalcidiol and vitamin D. He also had history of asthma and night-time snoring and was treated with inhaled therapy as needed.

Couple of days prior to the admission, he had cough without fever. At arrival to the Emergency department, his temperature was 36.5°c, blood pressure 98/65 mmHg, saturation of 82% and his weight was 40.5 kg (5.3 SDS). On physical examination, the patient appears exhausted and drowsy, with poor respiratory effort, and minimal breath sounds. Venous blood gases revealed pH-7.031, pCO2-100 mmHg, pO2-30 mmHg, HCO3-26.1 mmol/l BE- −7.3 mmol/l. He had marked leukocytosis of 35,560/microl and C-reactive protein of 40.1 mg/l (normal range of 0.08–5).

Clinical management: He was treated with 100% oxygen mask, albuterol, ipratropium and budesonide inhalations, IV methylprednisolone, ceftriaxone, furosemide and magnesium. Due to poor response to treatment he received continues terbutaline infusion and high flow nasal canulla (HFNC) with improvement.

Conclusion: Asthma and sleep apnea may be severe complications of obese PHP1A patients. Early detection and intervention could improve health outcome of this vulnerable population.

Disclosure: The authors declared no competing interests.