2022, Vol. 5, Issue 2, Part A

Background: Neurofibromatosis Type 1or Von Recklinghausen disease is a group of autosomal dominant disease that have widespread effect on ectodermal and mesodermal tissue. Neurofibromas are the characteristic lesions of the condition that occur not only in the neuraxis but can also be found in the oropharynx and larynx; making laryngoscopy and tracheal intubation difficult. Neurofibromas may also affect the gastrointestinal tract and carcinoid tumours may be found in the duodenum.

Aim: We report a case of 50-year-old male patient with NF1 posted for Whipple’s surgery. This study discusses the aetiology, clinical presentation and anaesthetic challenges of neurofibromatosis with its significance to the anaesthetist. We did a brief review so as to optimise anaesthetic management and reduce the complications associated with systemic manifestations of this syndrome.

Case Report: A 50-year-old male patient with neurofibromatosis 1 was diagnosed with periampullary carcinoma. He presented with yellowish discolouration of eyes and urine for one month, associated with abdominal pain but with no h/o fever, GI bleed, abdominal distention. He had multiple small neurofibromas all over the face, body, back, hands and the nape of neck. A difficult yet successful epidural was inserted in T9-T10 space keeping in mind various spinal abnormalities that occurs in these patients. Presuming it to be difficult airway, patient was intubated with C-MAC. The histopathological report of the Periampullary specimen showed mucosa with small areas of neuroendocrine tumour (CK and Synaptophysin positive).

Result and Conclusion: The surgery was conducted successfully and the patient was extubated. This case report demonstrates the importance of knowing the peculiarities of neurofibromatosis presenting for surgery so that a systematic approach to the pre-operative assessment of these patients can result in rational perioperative management.