levetiracetam and Neurofibromatosis-1

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.

Topics: Adult; Anti-Bacterial Agents; Anticonvulsants; Antiviral Agents; Brain Diseases; Cafe-au-Lait Spots; Diarrhea; Fluid Therapy; Functional Neuroimaging; Hormone Replacement Therapy; Humans; Hypopituitarism; Levetiracetam; Magnetic Resonance Imaging; Male; Nerve Sheath Neoplasms; Neurofibromatosis 1; Piracetam; Seizures; Stroke; Testosterone; Treatment Outcome

Following a collapse at home, a previously well 24-year-old Ukrainian man living in Ireland was brought to the emergency department. He complained of neck pain and cervical spine radiographs revealed loss of lordosis, scalloping of the posterior vertebral bodies and widening of the neural exit foramina at C7. In view of these unusual radiological findings, further examination of the patient demonstrated multiple flat uniformly hyperpigmented brown macules with multiple subcutaneous well-circumscribed lesions along the distribution of the peripheral nerves. An MRI scan of the neck revealed multiple neurofibromas in the vertebral canal with cord compression at C7-T1. A diagnosis of neurofibromatosis type 1 was made. Other investigations to determine the aetiology of the collapse were normal and the patient was discharged with follow-up at specialist neurology and neurosurgical clinics. In recent years there have been increased numbers of economic migrants presenting to the emergency department in the UK and Ireland from European Union accession states. This case highlights the need for increased awareness among emergency physicians to previously undiagnosed genetic and congenital conditions.

Topics: Anticonvulsants; Humans; Levetiracetam; Male; Neck Pain; Neurofibromatosis 1; Piracetam; Seizures; Soft Tissue Neoplasms; Young Adult