Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome
| Autor: | Hisashi Kawawaki, Ichiro Kuki, Megumi Nukui, Shinji Saitoh, Takeshi Inoue, Masataka Fukuoka, Yuji Nakamura, Kiyohiro Kim, Aya Hashimoto, Shin Okazaki |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Pes cavus Cerebellar Ataxia Foot Deformities Congenital Hearing Loss Sensorineural Thalamus 03 medical and health sciences 0302 clinical medicine Atrophy Developmental Neuroscience ATP1A3 Internal medicine Humans Medicine Tomography Emission-Computed Single-Photon Reflex Abnormal Cerebellar ataxia business.industry Infant General Medicine medicine.disease Optic Atrophy Phenotype Cerebral blood flow Cerebrovascular Circulation Mutation Pediatrics Perinatology and Child Health Cardiology Female Sensorineural hearing loss Neurology (clinical) Sodium-Potassium-Exchanging ATPase medicine.symptom business 030217 neurology & neurosurgery Truncal ataxia |
| Zdroj: | Brain and Development. 41:625-629 |
| ISSN: | 0387-7604 |
| Popis: | Background Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. Methods After febrile illnesses at 7 months of age, and again at 22 months of age, the boy had a reduced level of consciousness, truncal ataxia and eye movement-disorders. The patient’s 32-year-old mother may have experienced an episode of acute encephalopathy in her childhood and sustained sensorineural hearing loss. In the present study, we demonstrated chronological dynamic changes in cerebral blood flow (CBF) in the son, using serial single-photon emission computed tomography (SPECT). Results The serial CBF-SPECT findings using statistical methods showed progressive hyperperfusion in the frontal lobes, basal ganglia and thalamus, and hypoperfusion in the occipital and temporal lobes during the acute and subacute phases. Thereafter, the dynamic changes of CBF improved in the chronic but hypoperfusion in thalamus appeared to the chronic phase. Conclusion The abnormal cortico-subcortical CBF may contribute to an acute encephalopathy-like condition in the acute stage of CAPOS syndrome. CAPOS syndrome is not often reported, and is possibly an under-recognized syndrome in clinically mild cases. |
| Databáze: | OpenAIRE |
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