Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559.4). Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60 s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult cerebellar ataxia with mild presentation.

A decade with anomic primary progressive aphasia.

Some patients with primary progressive aphasia (PPA) demonstrate only anomia. The lack of longitudinal observations of anomic PPA precluded us from determining whether progressive anomic aphasia was simply an early stage of semantic or logopenic variants, or a relatively independent variant. Herein, we report the 10-year clinical course of a patient with PPA who presented with pure anomic aphasia for 9 years. He is a right-handed man with anomia, who noticed word-finding difficulty at age 73. He was admitted to the hospital at age 77. On admission, the patient showed pure anomic aphasia with preserved other language function. Episodic memory and visuospatial function were preserved. Magnetic resonance imaging (MRI) revealed left temporal lobe atrophy. At 82 years of age, the patient presented with pure anomic aphasia. At 83 years old, he showed mild impairment in word comprehension and semantic memory, in addition to anomia. MRI demonstrated further atrophy in the bilateral anterior temporal lobes, predominantly on the left side. This case suggests the possibility of slowly progressive, late-onset anomic PPA, which could be differentiated from the early stage of semantic or logopenic variants.

Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome.

A 26-year-old woman developed a sudden headache, ptosis, and diplopia. Magnetic resonance imaging and angiography demonstrated a symmetrical lesion from the midbrain to the brainstem, involving the solitary nucleus and multifocal cerebral artery narrowing. Reversible cerebral vasoconstriction syndrome (RCVS) was suspected, and the patient improved after vasodilatation. Leigh syndrome was suspected due to the elevated serum pyruvate level, so mitochondrial DNA was analyzed, and an m.9176T>C mutation was detected. The final diagnosis was adult-onset Leigh syndrome manifesting as RCVS. An uncontrolled baroreflex due to a solitary nuclear lesion or endothelial dysfunction may have contributed to her unique presentation.