312 - Suspected Pituitary Ischemia Secondary to Inherited Coagulopathy Leading to Metabolic Myopathy: A Case Report

Thursday, February 22, 2024

5:00 PM – 6:30 PM EDT

Presenting Author(s)

DH

David Ho, DO

Resident Physician
University of California, Irvine
Garden Grove, California, United States

Co-Author(s)

JT

Jonathan Teng, MD

Resident Physician
UCIMC
Orange, California, United States
SL

Sujin Lee, N/A, MD

Assistant Clinical Professor/ Associate Residency Program Director
MemorialCare Long Beach Medical Center/ University of California, Irvine
Long Beach, California, United States

Case Diagnosis: Pediatric Metabolic Myopathy

Case Description: A 17-year-old male with a history of Factor V Leiden mutation, Prothrombin 20210A thrombophilia, pulmonary vein saddle thrombus on lifetime anticoagulation, seizures, and severe obesity presented with recurrent falls, fatigue, and encephalopathy. He was admitted for concerns about myxedema coma (hypotension, hypothermia, and bradycardia). He presented with decreased muscle strength in the lower extremities, diffusely from hip flexors to ankle plantar flexion. He had difficulty rising from a sitting position, climbing stairs, and practicing any above-head activities. Laboratory analysis revealed pancytopenia with negative bone marrow biopsy; and panhypopituitarism (adrenal insufficiency, diabetes insipidus, hypothyroidism, GH deficiency, hypogonadotrophic hypogonadism). Neuraxis imaging was negative. Endocrinology started hormone replacement therapy. Pediatric inpatient rehabilitation service coordinated aggressive multimodal therapy, focusing on muscle weakness, with significant improvement in transfers and gait upon discharge.

Discussions: Common etiologies for metabolic myopathy include nutritional deficiencies, toxic, and environmental. Pituitary ischemia typically occurs in Sheehan's syndrome, where postpartum hemorrhage results in pituitary necrosis and hypopituitarism. Resultant hormone deficiency, such as growth hormone deficiency, was attributed to decreased muscle mass and bone cell dyshomeostasis. Rehabilitative strategies include identifying, treating, and stabilizing underlying endocrinopathies while continuing with multi-faceted rehabilitative approaches focused on impaired mobility and activities of daily living. Although there was negative central imaging, this patient’s muscle weakness was attributed to ischemic pituitary gland injury. Hormone replacement occurred with levothyroxine, desmopressin, growth hormone, and hydrocortisone. Testosterone was held due to clot-inhibiting breakdown properties. Limited studies demonstrate complete recovery of Sheehan syndrome with pituitary hormone replacement, which may have contributed to the functional recovery.

Conclusions: This case highlights the first pediatric case involving inherited coagulopathy that resulted in suspected pituitary ischemia and subsequent metabolic myopathy. Prompt recognition, initiation of metabolic supplementation, and comprehensive rehabilitation service for this unique condition will be necessary to ensure optimal clinical and functional recovery and prognosis.