Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms

Waqar Waheed

Muriel Nathan

Gilman Allen

Neil Borden

M Babi

Rup Tandan

^{Department of Neurological sciences, University of Vermont, Burlington, Vermont, USA}

^{Division of Endocrinology, Department of Medicine, University of Vermont College of Medicine, South Burlington, Vermont, USA}

^{Division of Pulmonary & Critical Care, Department of Medicine, University of Vermont College of Medicine, Burlington, Vermont, USA}

^{Department of Radiology, University of Vermont College of Medicine, Burlington, Vermont, USA}

^{Dr Waqar Waheed,}gro.htlaehmvu@deehaw.raqaw

Accepted 2015 Oct 15.

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.

Abstract

TSH, thyroid-stimulating hormone; T3, triiodothyronine; T4, thyroxine.

Learning points

Footnotes

Contributors: WW, MHN, GBA, NB, M. Ali Babi* and Rup Tandan* all made substantive contributions to the following: (1) conception and design, acquisition of data, and/or analysis and interpretation of data; (2) Drafting and/or revising the case report for important intellectual content; and (3) Final approval of the manuscript. We have attached the BMJ authorship form including the names and signatures of all five authors (*Institution/Department and contact information for Drs Babi and Tandan is included with the cover letter that accompanies this submission).

Competing interests: None declared.

Patient consent: Obtained.

Provenance and peer review: Not commissioned; externally peer reviewed.

Footnotes

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