Rinsho Shinkeigaku (Clinical Neurology)

Case Report

An autopsy case report of a patient with frontotemporal dementia with motor neuron disease in totally locked-in state showing hyperosmolar hyperosmotic state

Jun Kaneko, M.D.1), Ryu-ichiro Sato, M.D.1), Masahide Watanabe, M.D., Ph.D.2), Kiyomitsu Oyanagi, M.D., Ph.D.3) and Michiaki Kinoshita, M.D., Ph.D.1)

1) Department of Neurology, Suwa Red Cross Hospital
2) Department of Pathology, Suwa Red Cross Hospital
3) Division of Neuropathology, Department of Brain Disease Research, Shinshu University School of Medicine

A 57-year-old man with no family history of amyotrophic lateral sclerosis (ALS) or diabetes was diagnosed with ALS, and placed in long-term care where an artificial respirator with tracheotomy was used. He was fed through a gastric fistula tube. He gradually lost the ability to communicate, and computed tomography revealed advanced atrophy of the frontotemporal lobe. He was abruptly suffered from polyuria 11 years after the onset of ALS, and was diagnosed with hyperosmolar hyperglycemic state (HHS). It recurred six years later with severe ascites and worsening of pleural effusion. He passed away 18 years after the onset of ALS. Pathological examination revealed a reduced numbers of Betz cells in the motor cortex, anterior horn cells in the spinal cord, and hypoglossal neurons. The remaining lower motor neurons and cells in the hippocampal dentate gyrus were positive for phosphorylated TDP-43. These corresponded to Type B on harmonized classification system for frontotemporal lobar degeneration (FTLD)-TDP pathology (Mackenzie, et al. 2011). Furthermore, the lateral, anterior, and anterolateral funiculi of the spinal cord, globus pallidus, thalamus, and brainstem tegmentum showed atrophy. The findings were compatible with ALS pathology in totally locked-in state (TLS). Hyalinized islets of Langerhans were observed scattered throughout the pancreas. The patient's muscles were nearly completely replaced by white, firm fat tissue. We considered that the patient's diabetic conditions contributed to the accumulation of excess fat in internal and external fat tissue as a result of the long-term dependence on enteral nutrition. Moreover, a disturbance in glucose metabolism in skeletal muscles that resulted from severe atrophy could have been another cause.
Full Text of this Article in Japanese PDF (6536K)

(CLINICA NEUROL, 62: 595−601, 2022)
key words: amyotrophic lateral sclerosis, hyperosmolar hyperglycemic state, diabetes, frontotemporal dementia with motor neuron disease, totally locked-in state

(Received: 14-Sep-21)