Nasu-Hakola disease (NHD) is a rare autosomal recessive neuropsychiatric disorder characterized by bone cysts, fractures, and cognitive impairment. Two genes are responsible for the development of NHD; TYROBP and TREM2. Although it presents with typical signs and symptoms, diagnosing this disease remains difficult. This case report describes a male with NHD with no family or past history of bone fractures who was diagnosed using exome sequencing. His frontal lobe psychiatric symptoms recovered partially following treatment with sodium valproate, but not with an antipsychotic.
Bone Cysts ; Consanguinity* ; Exome* ; Fractures, Bone ; Frontal Lobe ; Humans ; Male ; Sodium* ; Valproic Acid*

STUDY DESIGN: Retrospective cohort study. PURPOSE: To investigate the correlation between the syrinx morphology and neuropathic pain caused by syringomyelia associated with Chiari I malformation. OVERVIEW OF LITERATURE: Neuropathic pain caused by syringomyelia is refractory and markedly impairs the patient. METHODS: We examined 24 patients with neuropathic pain caused by syringomyelia associated with Chiari I malformation. We statistically analyzed the illness duration and age at surgery between patients with and without neuropathic pain. Additionally, we classified the morphology of the syringes into deviated (D), enlarged (E), central (C), and bulkhead (B) types using T2-weighted axial imaging. Moreover, we investigated the correlation between syrinx morphology and neuropathic pain. A Mann–Whitney U-test was performed to compare between the presence or absence of neuropathic pain and the presence or absence of type D syringes. RESULTS: The median age at surgery was 27.5 years, and the median illness duration was 24 months. Among the 24 patients, 11 had preoperative neuropathic pain, one of which was free of neuropathic pain during the final follow-up period. Among patients with neuropathic pain, the syringes’ preoperative morphology was type D in nine patients and types E and C in one patient each. No patient exhibited type B morphology. Among patients without neuropathic pain, the preoperative morphology of the syringes was type D in three patients, type E in seven patients, and types C and B in two patients each. For types D and E, a correlation between neuropathic pain and syrinx morphology was observed. Moreover, type D was associated with significant neuropathic pain in both preoperative and postoperative states. CONCLUSIONS: This study showed a correlation between the morphological features of the syringes and the occurrence of neuropathic pain in patients with syringomyelia associated with Chiari I malformation.
Cohort Studies ; Follow-Up Studies ; Humans ; Magnetic Resonance Imaging ; Neuralgia ; Retrospective Studies ; Syringes ; Syringomyelia