The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports

Abstract

Stambolliu, E.; Ioakeim-Ioannidou, M.; Kontokostas, K.; Dakoutrou, M.; Kousoulis, A.A. (2017) This review aimed at reporting its main non-neurological comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword dandywalker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1y.o. (40.6%) or >12y.o. (27.8%). One-third of cases had a chromosomal abnormality or syndrome (N=8 PHACE), 27% had a cardiovascular condition (N=7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (N=9 cataract); most common malignancy was nephroblastoma (N=8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability. CONCLUSION: The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years.

Pierquin Syndrome: Report of a New Case

“…Any of these malformations could lead to the initial presentation. 3,4 The combination of Dandy-Walker malformation and postaxial polydactyly has only been reported in two pairs of siblings and in two different isolated cases. The clinical features of all cases reported in the literature to date are summarized in ►Table 1.…”

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

“…The frequency of DWM in the U.S. is ~1 in 25,000–35,000 liveborn infants ( https://rarediseases.org/rare-diseases/dandy-walker-malformation/ ). DWM becomes apparent in early infancy, is complicated by macrocephaly, and occurs along with increased intracranial pressure, spastic paraparesis, and hypotonia 2 . In addition, motor deficits, such as delayed motor development, hypotonia, and ataxia, as well as intellectual disability (ID), are often seen 1 , 2 .…”

“…DWM becomes apparent in early infancy, is complicated by macrocephaly, and occurs along with increased intracranial pressure, spastic paraparesis, and hypotonia 2 . In addition, motor deficits, such as delayed motor development, hypotonia, and ataxia, as well as intellectual disability (ID), are often seen 1 , 2 . To date, various chromosomal abnormalities, such as trisomy 9, −13, −18 and partial duplications/deletions of chromosomes, in DWM patients have been reviewed 1 .…”

Caracterização do perfil psicológico de individuos com sindrome Opitz GBBB

“…Anomalias estruturais de SNC são achados comuns nos indivíduos com síndrome Opitz GBBB. Estas incluem: agenesia de corpo caloso, atrofia cerebral, anomalia de vermis cerebelar, dilatação ventricular, alargamento da cisterna magna, alargamento do septo pelúcido, anomalia de Dandy-Walker, entre outras (NERI et al, 1987;GUION-ALMEIDA;RICHIERI-COSTA, 1992;MACDONALD et al, 1993;De FALCO et al, 2003;FONTANELLA;RUSSOLILLO;MERONI, 2008;SIEMANN, 2014 FONSECA et al, 2017;STAMBOLLIU et al, 2017). Agenesia parcial do vermis cerebelar inferior e megacisterna magna são consideradas variações menores dentro do spectro do complexo de Dandy-Walker (CDW) (GROSS; KAYS; SHURA, 2015).…”

“…Clinicamente, as manifestações do CDW incluem atraso no desenvolvimento motor, hipotonia, ataxia, hidrocefalia, convulsão, deficiência de aprendizagem e transtorno do comportamento (TAVANO et al, 2007;STAMBOLLIU et al, 2017). Em relação ao desenvolvimento intelectual os resultados são variáveis, podendo apresentar classificações dentro do padrão de normalidade até deficiência intelectual (ECKER et al, 2000;CARDOSO et al, 2007;STAMBOLLIU et al, 2017). • Caracterizar a função cognitiva de uma amostra de indivíduos com diagnóstico de síndrome Opitz GBBB;…”