Division of Cognitive and Neuropsychology, Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland
Division of Cognitive and Neuropsychology, Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland.
Arch Clin Neuropsychol. 2016 Aug;31(5):472-9. doi: 10.1093/arclin/acw026. Epub 2016 May 26.
The middle interhemispheric variant of holoprosencephaly (MIHV) is a mild, rare variant of holoprosencephaly. Only a few cases of children with MIHV have been reported. Here we report in detail an adult case.
The patient is a female in her 30s. The patient underwent an extensive neuropsychological examination, a neurological examination and a magnetic resonance imaging.
Neuroradiologically, the patient had a typical finding of MIHV, with the absence of the central corpus callosum and union of posterior frontal and anterior parietal gyri. In neuropsychological examination, the patient had average or above average performance in verbal comprehension, naming, reading and writing, and below average performance in perceptual reasoning, visuospatial abilities, processing speed and memory. Also difficulties in mathematical abilities, psychomotor skills, and executive functions were found. No gross neurological involvement was noted. She was diagnosed with atypical depression, post-traumatic stress disorder and a dissociative disorder in early adulthood. Despite cognitive deficits, she was able to achieve a tertiary level education.
This is the first adult case of MIHV described in detail. Our case emphasizes the possibility of a missed diagnosis of marked brain malformations in patients with craniofacial abnormalities. More cases and prospective follow-up studies are needed to understand the evolvement of both neuropsychological and psychiatric symptoms in these patients.
中脑隔侧偏位的全前脑畸形（MIHV）是一种轻度的、罕见的全前脑畸形变异。仅有少数儿童 MIHV 病例被报道。在此，我们详细报告一例成年病例。
患者为一名 30 多岁的女性。患者接受了广泛的神经心理学检查、神经系统检查和磁共振成像。
神经影像学上，患者具有典型的 MIHV 表现，表现为胼胝体缺如和额、顶后回的联合。神经心理学检查发现，患者在言语理解、命名、阅读和书写方面表现中等或高于平均水平，而在知觉推理、视空间能力、加工速度和记忆方面表现低于平均水平。还发现了数学能力、运动技能和执行功能方面的困难。没有明显的神经功能障碍。她在成年早期被诊断为非典型抑郁症、创伤后应激障碍和分离障碍。尽管存在认知缺陷，她仍能够获得高等教育。
这是首例详细描述的 MIHV 成年病例。我们的病例强调了在颅面畸形患者中，可能会漏诊明显的脑畸形。需要更多的病例和前瞻性随访研究来了解这些患者神经心理学和精神症状的演变。
