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1.
No Shinkei Geka ; 48(9): 841-847, 2020 Sep.
Artigo em Japonês | MEDLINE | ID: mdl-32938813

RESUMO

We experienced a case of an accidental infantile acute subdural hematoma caused by household minor head trauma(Nakamura type I intracranial hemorrhage)with postoperative hemispheric hypodensity lesion(Big Black Brain)whose pathophysiology was analyzed using perfusion MRI. A ten-month-old boy was admitted to our hospital in a comatose state. His mother revealed that the boy suffered a fall from a sofa bed. A CT scan indicated massive acute subdural hematoma in the left cerebral hemisphere. Emergency craniotomy and hematoma evacuation were performed. On postoperative day 3, CT revealed hemispheric hypodensity, and the boy suffered from status epilepticus. MRI on the following day showed widespread white matter hyperintensity in diffusion-weighted images, and MRA demonstrated dilation of the middle cerebral artery. Perfusion MRI using the dynamic susceptibility contrast method revealed a marked increase in cerebral blood flow in the left hemisphere. These abnormal MRI and MRA findings disappeared on postoperative day 13. Status epilepticus also improved upon administration of multi-antiepileptic drugs. Fundoscopy findings on postoperative day 3 showed small bilateral petechial or brush retinal hemorrhages. However, whole-body examination did not show any problems, and was consistent with the mother's account. Thus, we judged non-abusive head trauma. Although follow-up MRI showed diffuse atrophy of the left cerebral hemisphere, the boy aged well without obvious paresis or verbal developmental delay as judged by a follow-up more than a year later. Based on these results, we speculated that hyperperfusion caused by dilation of the cerebral artery was related to the postoperative hemispheric hypodensity, namely "Big Black Brain".


Assuntos
Traumatismos Craniocerebrais , Hematoma Subdural Agudo , Encéfalo , Humanos , Lactente , Hemorragias Intracranianas , Masculino , Tomografia Computadorizada por Raios X
2.
Am J Med Genet A ; 179(6): 948-957, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30941898

RESUMO

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss-of-function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to cause an arthrogryposis syndrome. Sixteen patients from eight families have been reported to date. Herein we report a new case, including detailed clinical characteristics and courses as well as comprehensive neurological features. The patient was a 12-year-old girl presenting with congenital multiple contractures, progressive severe scoliosis, prenatal-onset growth impairment, motor developmental delay with hypotonia and myopathy-like muscle pathology, mild facial features, and normal intelligence. Her neurological features included areflexia, impaired proprioception, and decreased senses. Neurophysiological examination revealed decreased amplitude of sensory nerve action potentials, absent H reflex, and prolongation of central conduction times. Clinical exome sequencing revealed a novel homozygous frameshift mutation in PIEZO2 (NM_022068: c.4171_4174delGTCA: p.Val1391Lysfs*39) with no detectable mRNA expression of the gene. PIEZO2 deficiency represents a clinical entity involving characteristic neuromuscular abnormalities and physical features. Next generation sequencing-based comprehensive molecular screening and extensive neurophysiological examination could be valuable for diagnosis of the disorder.


Assuntos
Artrogripose/diagnóstico , Artrogripose/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Canais Iônicos/deficiência , Fenótipo , Criança , Eletromiografia , Fácies , Feminino , Expressão Gênica , Estudos de Associação Genética/métodos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Degradação do RNAm Mediada por Códon sem Sentido , Análise de Sequência de DNA , Síndrome
3.
Brain Dev ; 39(9): 804-807, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28551038

RESUMO

We present a 3-year-old girl with beta-propeller protein-associated neurodegeneration (BPAN) who had a de novo heterozygous splice-site mutation of c.831-1G>C in WDR45 and developed infantile spasms; her onset age of infantile spasms was relatively late. Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN®Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. BPAN is known to be associated with various types of seizures, but there are few reports on infantile spasms, especially in females. To date, only 5 patients with BPAN have been reported to develop infantile spasms, and our patient is the second case in females. In this report, we showed that female patients with BPAN had milder phenotypic features than males: males developed intractable infantile spasms in early infancy, while females had treatable infantile spasms in late infancy.


Assuntos
Proteínas de Transporte/genética , Mutação/genética , Espasmos Infantis/genética , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Espasmos Infantis/complicações
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