Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
© Piro et al.; licensee BioMed Central Ltd. 2013
Received: 29 December 2012
Accepted: 3 May 2013
Published: 14 May 2013
Prenatal ultrasonographic detection of unilateral cerebral ventriculomegaly arises suspicion of pathological condition related to cerebrospinal fluid flow obstruction or cerebral parenchimal pathology. Dyke-Davidoff-Masson syndrome is a rare condition characterized by cerebral hemiatrophy, calvarial thickening, skull and facial asymmetry, contralateral hemiparesis, cognitive impairment and seizures. Congenital and acquired types are recognized and have been described, mainly in late childhood, adolescence and adult ages. We describe a female infant with prenatal diagnosis of unilateral left ventriculomegaly in which early brain MRI and contrast enhanced-MRI angiography, showed cerebral left hemiatrophy associated with reduced caliber of the left middle cerebral artery revealing the characteristic findings of the Dyke-Davidoff-Masson syndrome. Prenatal imaging, cerebral vascular anomaly responsible for the cerebral hemiatrophy and the early clinical evolution have never been described before in such a young child and complete the acquired clinical descriptions in older children. Differential diagnosis, genetic investigations, neurophysiologic assessments, short term clinical and developmental follow up are described. Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.
Dyke-Davidoff-Masson syndrome (DDMS) was first reported in 1933 . Since then several patients have been described, mainly in late childhood, adolescence and adult ages. Main clinical features consist of cerebral hemiatrophy (CH), contralateral hemiplegia, facial asymmetry, developmental delay, cognitive impairment and seizures. Congenital and acquired presentations of DDMS are recognized. In the congenital type structural anomalies of the cerebral artery vessels have been recently described and considered responsible for the hemispheric atrophy. Few patients with DDMS have been diagnosed during infancy. To our knowledge our patient represents the first clinical description of a child with prenatal ventriculomegaly as indirect finding of cerebral parenchymal involvement in which Contrast-Enhanced MRI angiography allowed the earliest diagnosis of congenital DDMS. We describe the clinical course, brain imaging and neurophysiologic data collected from prenatal evidence of ventricular dilatation up to 9-months of age.
At 6 months of age a left facial asymmetry was emerging and the Bayley II Mental Developmental Index (MDI) was 65 (severely delayed). Nystagmus was no more present. Stretching toward objects, grasping and manipulation were present only with the left hand. She was able to sit with little back support, the sideways parachute reflex was absent on the right side. At 9 months of age her weight, length and head circumference were below the 3rd centile, left facial hypotrophy was evident and the Bayley II MDI was 58. Right upper and lower limbs hypotrophy was present. At rest the right arm was maintained in flexed position, early signs of contralateral hemiplegia. An EEG showed a normal background activity for age and a mild asymmetry in amplitude with a lower voltage in the left hemisphere.
Our report can be considered original since we describe the earliest clinical presentation and diagnosis of a primary or congenital type of DDM. Early diagnosis in this case could be achieved thanks to a group with experience in pediatric dysmorphology.
In our patient isolated unilateral ventriculomegaly, detected on prenatal US, was confirmed to be related to hemispheric hypotrophy on neonatal transcranial US and MRI. Transcranial Doppler US arose suspicion of left MCA anomaly so we performed a contrast enhanced-MRI angiography that confirmed the reduced caliber of the left MCA and its segments concomitant to unilateral brain hypoplasia.
Clinically apart from the isolated depression exhibited at birth, our patient did not suffer respiratory distress, encephalopathy or multiorgan dysfunction. She showed transient weak suction and an isolated axial hypotonia of central origin persistent at two months with a normal spontaneous motility. Thus until the second month of age, clinical evidence of hemisyndrome in terms of posture, asymmetry of resting muscular tone or spontaneous motility was not present. The normal latency of the principal fVEP component, in the presence of a left occipital lobe hypotrophy, is compatible with the supposed subcortical generators of fVEP . Nystagmus, immaturity of eye fixation and pursuit may be ascribed to impairment of functionally related cortical and subcortical areas. The first peculiar findings of DDMS, face asymmetry and impaired left upper limb function, emerged by six months of age and at 9 months of age right sided hemiplegia and body hypotrophy affecting also the limbs were clearly evident. Body hypoplasia affecting principally the limbs, contralateral to the atrophic hemisphere and associated with superficial sensory deficit and hemiplegia, can be considered secondary to the impaired hemispheric functions.
This very early clinical evolution has never been described before and integrates with previous clinical reports of DDMS in children [3–5] that describe the neurodevelopmental impairment in patients aged at least 12 months.
Congenital and acquired conditions associated with fetal/neonatal cerebral hemiatrophy
Cerebral hemispheric hypoperfusion 
Brain dysgenesis (schizencephaly, polymicrogyria)
Encephalocraniocutaneous lipomatosis 
Schimmelpenning syndrome 
Dyke-Davidoff-Masson syndrome must be ruled out in differential diagnosis of fetal unilateral ventriculomegaly. We report the earliest diagnosis of Dyke-Davidoff-Masson syndrome described in infancy. Early clinical assessment, differential diagnosis and cerebral imaging including cerebral MRI angiography allow the clinicians to diagnose also in early infancy this rare condition.
Written informed consent was obtained from the patient's parents for publication of this report and any accompanying images.
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