A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome

Colombani, Marina; Chouchane, Mondher; Pitelet, G.; Morales, Laure; Callier, Patrick; Pinard, Jean-Pierre; Lion‐François, Laurence; Thauvin‐Robinet, Christel; Mugneret, Francine; Huet, Frédéric; Guibaud, Laurent; Faivre, Laurence

doi:10.1016/j.ejmg.2006.05.001

Cited by 24 publications

(28 citation statements)

References 8 publications

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“…From these phenotypic features, a tentative diagnosis of MPPH spectrum was made. This disorder is characterized by visual impairment, developmental delay, intellectual disability and often epilepsy and facial dysmorphism in varying degrees . All findings were discussed with the parents, and they opted for a termination of pregnancy.…”

Section: Case Reportmentioning

confidence: 99%

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Prenatal diagnosis of MPPH syndrome

et al. 2013

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We report the prenatal sonographic detection of a fetus with megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been reported in the literature so far, all but one were diagnosed postnatally. The polymicrogyria in the frontoparietal lobe was confirmed by prenatal magnetic resonance imaging. Additionally, a hypoplastic thymus as seen in a 22q11 deletion was present. Although polymicrogyria along with pre-axial polydactyly has been described in 22q11 deletion, the diagnosis of Di George syndrome was ruled out. The etiology of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly has not been revealed yet. A dominant as well as recessive inheritance has been suggested.

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Section: Case Reportmentioning

confidence: 99%

“…Since the initial report in 2004, a small number of cases of megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH) syndrome have been reported with some variability in the extent of features …”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of MPPH syndrome

et al. 2013

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“…6 In MPPH syndrome, a cystic CSP has been described in all except 1 patient, a higher occurrence rate than that in the general infant population of 10%-40%. 2,5,7,8 Hence, the cystic CSP in our patient could have related to chronic low-level hydrocephalus, with a decreased size from extraventricular decompression outside the ventricles, because the subarachnoid spaces along the convexities were more prominent on follow-up MR imaging. However, we cannot exclude the possibility that the cystic CSP is a developmental defect associated with MPPH.…”

Section: Case Reportmentioning

confidence: 99%

“…We also report an elongated pituitary infundibulum along with a regressing cystic cavum septum pellucidum (CSP); cystic CSP has been described previously in MPPH, but without reports of regression. 2,5,6 We discuss how to distinguish MPPH from other syndromes presenting with polymicrogyria or megalencephaly. …”

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confidence: 99%

Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings: Fig 1.

Töre¹,

McKinney²,

Nagar

et al. 2009

AJNR Am J Neuroradiol

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SUMMARY:Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, along with the presence of a regressing cystic cavum septum pellucidum, suggests that chronic underlying hydrocephalus may have been present. Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome was first described in 2004, with only 9 cases reported so far; hence, the prevalence has not yet been determined.1,2 Hydrocephalus has been considered a mandatory component of this syndrome. [1][2][3][4] We report a patient with macrocephaly, polymicrogyria, and polydactyly, but without overt hydrocephalus. We also report an elongated pituitary infundibulum along with a regressing cystic cavum septum pellucidum (CSP); cystic CSP has been described previously in MPPH, but without reports of regression. 2,5,6 We discuss how to distinguish MPPH from other syndromes presenting with polymicrogyria or megalencephaly. Case ReportA 1-day-old boy was born to a healthy nonconsanguineous family at 39-weeks' gestation. Findings of prenatal sonography had suggested mildly dilated lateral and third ventricles, but with an otherwise unremarkable prenatal follow-up. After initially low Apgar scores but subsequent improvement with bag-mask ventilation, the patient was admitted to the neonatal intensive care unit with normal breathing. On physical examination, he was macrocephalic (head circumference Ͼ3.5 SDs above normal) with normal body length and weight, but with bilateral sixth digits along the ulnar aspects of the hands on plain films ( Fig 1A). He had low-set ears, a high arching palate without cleft or cyst, and esotropia. No hypotonia/hypertonia was present, and deep tendon reflexes were normal. Results of blood biochemistry, cultures, and investigations for metabolic disease were unremarkable. Findings of cytogenetic analysis were unrevealing. Kidney and cardiac ultrasound findings were unremarkable.Cranial sonography was then performed, which suggested subtle lateral ventricular dilation. Thereafter, MR imaging demonstrated diffuse polymicrogyria bilaterally, favoring the posterior frontal lobes and perisylvian regions (Fig 1B, -C). Additional findings included an elongated pituitary infundibulum without other sellar abnormalities.A cystic CSP was present, measuring 1.5-cm maximum transverse diameter (Fig 1C). The myelination pattern appeared normal. There was mild colpocephaly of the lateral ventricles, but without enlargement of the anterior recesses of the third ventricle or of the temporal horns of the lateral ventricles (Fig 1D). The midbrain and corpus callosum appeared normal.At 7 months, the patient developed seizures, which were controlled by medication. An electroencephalogram indicated seizure ac...

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“…Common symptoms of PMG include mental retardation, epilepsy, and developmental delay [2]. Several different forms of PMG are associated with enlarged LVs, such as megalencephaly PMG with polydactyly and hydrocephalus (MPPH) [7], [20], unilateral PMG [19], and bilateral frontoparietal PMG (BFPP) [6], [27]. Our model can encapsulate the enlargement of LVs by increasing the growth rate R, leading to a larger prolate spheroid (and hence LV) at any t > 0.…”

Section: B Application To Diseases Of Cortical Foldingmentioning

confidence: 99%

Growth in a Turing Model of Cortical Folding

Toole¹,

Hurdal

2012

BIOMATH

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BIOMATH h t t p : / / w w w. b i o m a t h f o r u m . o r g / b i o m a t h / i n d e x . p h p / b i o m a t h /cortical folding may be more realistic than previous static domain models of cortical folding since it incorporates the growth that naturally occurs as the brain develops. By comparing patterns generated by our growing prolate spheroid Turing system with those generated by a static prolate spheroid Turing system, we show that the addition of growth causes a significant change in system behavior; the system produces transient patterns instead of converging to one final pattern. Our model illustrates the importance of including growth in a model of cortical folding and can be utilized to explain certain human diseases of cortical folding.

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A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome

Cited by 24 publications

References 8 publications

Prenatal diagnosis of MPPH syndrome

Prenatal diagnosis of MPPH syndrome

Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings: Fig 1.

Growth in a Turing Model of Cortical Folding

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