The patient with mild diencephalic–mesencephalic junction dysplasia – Case report and review of literature

Abstract

Diencephalic-mesencephalic junction dysplasia (DMJD) is very rare congenital brain malformation. We present a 66-years-old man with mild cognitive impairment, dysarthria, deafness, gait abnormality, and involuntary movements of the trunk. The first symptoms, psychomotor excitation and anxiety begun when he was over thirty years old however the symptoms gradually intensified and slowly progressed. The magnetic resonance imaging scans showed partial DMJD. According to recent date it represented type-B of the malformation with relatively mild phenotype in relation to the previously described in literature type-A. To the best of our knowledge this is the first description of an adult patient diagnosed with DMJD anomaly.

Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

“…The diencephalic‐mesencephalic junction dysplasias are a recently described form of forebrain‐midbrain malformation 1–5 . We report here a 12‐year single‐center experience of DMJD, which we believe is the largest case series to date, with 33 cases with DMJD identified on fetal MRI or demonstrated retrospectively and detectable as early as 18 weeks gestational age.…”

“…A recent report of developmental hydrocephalus using retrospective fetal MRI studies identified 13 male fetuses with DMJD as early as 24 weeks gestation; an X‐linked inheritance was proposed but not confirmed 3 . To date, only one adult with DMJD has been reported, with mild cognitive impairment, dysarthria, gait abnormality, deafness, and involuntary trunk movements 5 …”

Type‐B Diencephalic‐Mesencephalic Junction Dysplasia Initially Presented With Secondary Cough‐Induced Headaches: A Case Report

“…Axial MRI of the midbrain shows a midline cleft with the classic appearance of the “butterfly” sign caused by extension of the third ventricle and other diencephalic structures into the midbrain 3 . To the best of our knowledge, only 2 cases of type‐B DMJD in adulthood have been reported in the literature 1,5 . These patients presented with slowly progressive symptoms including: cognitive dysfunction, movement disorders, hemiparesis, hearing loss, speech dysfunction, and gait dysfunction.…”

“…3 To the best of our knowledge, only 2 cases of type-B DMJD in adulthood have been reported in the literature. 1,5 These patients presented with slowly progressive symptoms including: cognitive dysfunction, movement disorders, hemiparesis, hearing loss, speech dysfunction, and gait dysfunction. Unlike our patient, these 2 patients did not present with headaches.…”

“…In the other two type-B patients, their symptoms progressed slowly over time and were not diagnosed until past the age of 40 years. 1,5 It is possible that if this had not developed headaches that this malformation would have gone unnoticed. It is also possible that our patient may have developed progressive neurologic dysfunction as he gets older.…”