Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in thePCNTgene

Abstract

Microcephalic osteodysplastic primordial dwarfism syndrome II (MOPDII) is microcephalic primordial dwarfism and is a very rare form of disproportionate short stature. This disorder shares common features with other forms of microcephalic primordial dwarfism, including severe prenatal and postnatal growth retardation with marked microcephaly. However, it includes characteristic skeletal dysplasia, abnormal dentition and increased risk for cerebrovascular diseases. Recent reports added more features, including café-au-lait lesions, cutis marmorata, astigmatism, Moyamoya disease, insulin resistance, obesity, abnormal skin pigmentation and acanthosis nigricans around the neck. Clearly, the more MOPDII reports that are produced, the more information will be added to the spectrum of MOPDII features that can improve our understanding of this disorder. In this paper, we reported a new case of MOPDII with more severe clinical features, earlier onset of common features, in addition to a homozygous novel variant in the PCNT gene.

Livedo racemosa in neurological diseases: an update on the differential diagnoses

“…MA mostly affects younger patients, whereas older patients tend to develop intracranial aneurysms [66,67]. Other associated findings include caf e-au-lait skin lesions, LRa, astigmatism, insulin resistance, obesity, renal involvement and hypertension [68,69]. As cerebrovascular pathologies appear to be the most significant cause of morbidity and mortality in patients with MOPD type II, establishing the correct diagnosis is essential for correct patient management.…”

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

“…11,13 In the past few years, different MOPDII reports have been published, and more information has been added to the spectrum of MOPDII syndrome, improving our understanding of this disorder. Café-au-lait lesions, cutis marmorata, abnormal skin pigmentation, and acanthosis nigricans are reported features, 14 and truncal obesity often develops with time. 15 Insulin resistance and diabetes have also been recently described.…”

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size

“…PCNT is the most frequently mutated gene in patients with recessive MPDs. Since the first patients were identified [ 35 , 36 ], 139 individuals from 116 families carrying 115 different biallelic variants spread over the gene have been reported [ 66 , 130 , 131 , 132 , 133 , 134 , 135 , 136 , 137 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 145 , 146 , 147 , 148 , 149 , 150 , 151 , 152 , 153 ]. All variants had loss-of-function mutations (nonsense, frameshift, and splicing).…”

“…This progressive arteriopathy is associated with developing compensatory capillary collaterals (smoke-like vessels) named moyamoya disease. Strokes or aneurysmal subarachnoid hemorrhages affected 51% of the reported patients who underwent brain MRI (28 out of 55) [ 35 , 130 , 131 , 135 , 135 , 138 , 139 , 140 , 141 , 142 , 143 , 144 , 148 , 151 ] and occurred early (median: 4.2 years old, range: 0.5–26 years). Moyamoya disease was reported in 13 out of 55 patients who underwent brain MRI [ 35 , 130 , 135 , 138 , 140 , 144 , 151 , 152 ].…”