Dandy-Walker syndrome in adult mimicking myasthenia gravis

Abstract

-The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-yearold woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.KEY WORDS: Dandy-Walker syndrome, hydrocephalus, myasthenia gravis, palpebral ptosis. Síndrome de Dandy-Walker em adulto simulando miastenia gravisRESUMO -A síndrome de Dandy-Walker (DWS) é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG), não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnéti-ca de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.

Dandy-Walker malformation: An incidental finding

“…[7] Various predisposing factors were reported such as infections, cranial trauma, chronic disturbance in cerebrospinal fluid pressure, persistence of embryonic tissue, vascular lesions, teratogens, rubella, alcohol and maternal diabetes. [2] In the present case, cranial trauma could have been the responsible factor.…”

Maternal Grand Mal Seizure Leads to a Surprising Diagnosis of Dandy‐Walker Variant

“…Rarely, there are no significant symptoms, and diagnosis occurs later or in older adulthood. Scattered case studies of this phenomenon are reported in the literature (Cardoso, Lange, Lorenzoni, Scola, & Werneck, 2007; Engelhard & Meyer, 1995; Forestier et al, 2008; Venturini, Magni, Pucci, & Mazzinghi, 2009; Warwick, Reyes, Ayoob, & Subit, 2008). Generally, the cause of Dandy‐Walker Malformation or Dandy‐Walker Variant is unknown.…”

Dandy –Walker Malformation with Patent Ductus Arteriosus– A Case Report

“…6 Literature suggests that 40% individuals with DWM were normal intellectuals while 40% had mental retardation and 20% were borderline. 7 It is said that clinical examination cannot replace any modalities of investigation. In DWM, there are many signs or symptoms, none of these are characteristic to diagnose individual as DWM and diagnosis is solely based on imaging techniques, usually computed tomography (CT scan) or magnetic resonance imaging (MRI) of brain.…”