title: Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms.
abstract: A 37-year-old man with a known history of neurofibromatosis 1 (NF1) presented within 2 days of diarrhoeal illness followed by encephalopathy, facial twitching, hypoglycaemia, hypotension, tachycardia and low-grade fever. Examination showed multiple café-au-lait spots and neurofibromas over the trunk, arms and legs and receptive aphasia with right homonymous hemianopia, which resolved. Workup for cardiac, inflammatory and infectious aetiologies was unrevealing. A brain MRI showed gyral swelling with increased T2 fluid-attenuated inversion recovery signal and diffusion restriction in the left cerebral cortex. Neuroendocrine findings suggested panhypopituitarism with centrally derived adrenal insufficiency. Supportive treatment, hormone supplementation, antibiotics, antivirals and levetiracetam yielded clinical improvement. A follow-up brain MRI showed focal left parieto-occipital atrophy with findings of cortical laminar necrosis. In conclusion, we describe a case of NF1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like findings, hitherto unreported manifestations of NF1. Prompt recognition and treatment of these associated conditions can prevent devastating complications.
authors.affiliation: Department of Neurological sciences, University of Vermont, Burlington, Vermont, USA.
authors.forename: Waqar
authors.initials: W
authors.lastname: Waheed
authors.affiliation: Division of Endocrinology, Department of Medicine, University of Vermont College of Medicine, South Burlington, Vermont, USA.
authors.forename: Muriel H
authors.initials: MH
authors.lastname: Nathan
authors.affiliation: Division of Pulmonary & Critical Care, Department of Medicine, University of Vermont College of Medicine, Burlington, Vermont, USA.
authors.forename: Gilman B
authors.initials: GB
authors.lastname: Allen
authors.affiliation: Department of Radiology, University of Vermont College of Medicine, Burlington, Vermont, USA.
authors.forename: Neil M
authors.initials: NM
authors.lastname: Borden
authors.affiliation: Department of Neurological sciences, University of Vermont, Burlington, Vermont, USA.
authors.forename: M Ali
authors.initials: MA
authors.lastname: Babi
authors.affiliation: Department of Neurological sciences, University of Vermont, Burlington, Vermont, USA.
authors.forename: Rup
authors.initials: R
authors.lastname: Tandan
mesh_terms: D000328:Adult; D000900:Anti-Bacterial Agents / Q000008:administration & dosage; D000927:Anticonvulsants / Q000008:administration & dosage; D000998:Antiviral Agents / Q000008:administration & dosage; D001927:Brain Diseases / Q000209:etiology / Q000473:pathology*; D019080:Cafe-au-Lait Spots / Q000209:etiology / Q000473:pathology*; D003967:Diarrhea / Q000209:etiology; D005440:Fluid Therapy; D059907:Functional Neuroimaging; D020249:Hormone Replacement Therapy; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology / Q000473:pathology*; D000077287:Levetiracetam; D008279:Magnetic Resonance Imaging; D008297:Male; D018317:Nerve Sheath Neoplasms / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000188:drug therapy / Q000473:pathology*; D010889:Piracetam / Q000008:administration & dosage / Q000031:analogs & derivatives; D012640:Seizures / Q000209:etiology; D020521:Stroke / Q000209:etiology / Q000473:pathology*; D013739:Testosterone; D016896:Treatment Outcome
chemical_list: D000900:Anti-Bacterial Agents; D000927:Anticonvulsants; D000998:Antiviral Agents; D013739:Testosterone; D000077287:Levetiracetam; D010889:Piracetam