Posterior fossa malformations are rare cyst-like pathologies of the central nervous system. Outcomes of patients with these conditions are largely documented in fetal or early childhood studies as most cases are non-compatible with life. Also, different schemes to categorize these occurrences have been proposed. One classification puts forth that the entities are a continuum of pathologies, called the Dandy Walker Complex, wherein Mega Cisterna Magna is the most benign to Dandy Walker Malformation as the most severe form. We report the first case of a patient with a mixed presentation of Mega Cisterna Magna having extracranial manifestations of Dandy Walker Malformation reaching her adult years. The patient is a 26-year-old female who was apparently well until she presented with recurrent headache and seizure episodes of 2-year duration. She had an unremarkable birth and childhood history, apart from learning difficulties in school. In her adult years, she gave birth to an infant with multiple physical anomalies. She has a maternal uncle with abnormal facie and intellectual disability. Physical examination of the patient exhibited a bulging occiput, hypertelorism, down-slanting palpebral fissures, large globular nose, large ear lobules, high arched palate, and clinodactyly. Neurologic examination was unremarkable. Magnetic resonance imaging confirmed Mega Cisterna Magna and was deemed non-surgical. She remained seizure-free during admission as well as on followup, maintained on Phenytoin. The existence of a Dandy-Walker continuum is still debated, as the link among the disease entities are yet to be established using developmental or genetic studies. This case, however, supports the Dandy-Walker Complex classification by demonstrating a rare combination of Mega Cisterna Magna with features of Dandy-Walker Malformation in an adult. This can contribute to disease definition and eventually to the discovery of the pathobiological mechanisms of posterior fossa cysts, and to appropriate diagnosis and management.

Human ; Female ; Adult: 25-44 Yrs Old ; Dandy-walker Malformation ; Dandy-walker Complex ; Dandy-walker Syndrome ; Rare Diseases

Humans ; Infant ; Female ; Dandy-Walker Syndrome/diagnosis* ; Tomography, X-Ray Computed ; Craniocerebral Trauma/complications*

OBJECTIVETo explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).

METHODSThe fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.

RESULTSThe parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.

CONCLUSIONAlteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.

Adult ; Chromosome Banding ; Chromosome Deletion ; Dandy-Walker Syndrome ; diagnosis ; genetics ; Female ; Humans ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis

Adult ; Dandy-Walker Syndrome ; complications ; pathology ; Humans ; MELAS Syndrome ; complications ; pathology ; Magnetic Resonance Imaging ; Male

No abstract available.
Carotid Artery, Internal* ; Dandy-Walker Syndrome*

Dandy-Walker variant is a developmental malformation consisting of cerebellar hypoplasia and cystic dilatation of the fourth ventricle. Previous research has proposed a possible role for the cerebellum in cognition and in schizophrenia. In this paper we report a schizophrenia-like psychotic disorder in a 30 year-old woman with Dandy-Walker variant. The patient was treated with risperidone 6 mg/day, biperiden 4 mg/day and risperidone depot 50 mg injections fortnightly, and most of the symptoms were ameliorated within 2 months. The similar cognitive profile to populations with cerebellar pathology and rarity of the condition strongly suggests that there may be direct relationship between cerebellar pathology and appearence of psychotic symptoms.
Adult ; Biperiden ; Cerebellum ; Cognition ; Comorbidity* ; Dandy-Walker Syndrome* ; Dilatation ; Female ; Fourth Ventricle ; Humans ; Pathology ; Psychotic Disorders* ; Risperidone ; Schizophrenia

Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant.
Anhedonia ; Appetite ; Bipolar Disorder ; Cerebellum ; Cognition ; Dandy-Walker Syndrome ; Dilatation ; Fourth Ventricle ; Humans ; Immersion ; Impulsive Behavior ; Magnetic Resonance Imaging ; Male

Adult ; Dandy-Walker Syndrome ; diagnosis ; surgery ; Female ; Humans ; Neurofibromatosis 1 ; diagnosis ; surgery ; Skull ; abnormalities

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.
Adolescent ; Central Nervous System ; Dandy-Walker Syndrome* ; Dilatation ; Fourth Ventricle ; Humans ; Hydrocephalus ; Intracranial Hemorrhages ; Male ; Melanocytes ; Melanoma ; Melanosis* ; Neurocutaneous Syndromes ; Nevus, Pigmented ; Spinal Cord*

OBJECTIVETo investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome.

METHODSNine cases of Dandy-Walker syndrome were included in the study. The autopsy findings and clinical history were evaluated along with review of the literature. The causes, pathogenetic mechanism, pathologic features and prognosis of Dandy-Walker syndrome were analyzed.

RESULTSAmong 9 Dandy-Walker syndrome cases, six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation. In addition, 4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases. Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome.

CONCLUSIONSDandy-Walker syndrome is a rare disease. In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies, placental and umbilical cord abnormality may be also related to its development.

Abortion, Induced ; Autopsy ; Dandy-Walker Syndrome ; diagnostic imaging ; pathology ; Female ; Fetal Diseases ; diagnostic imaging ; pathology ; Fetus ; pathology ; Gestational Age ; Humans ; Lateral Ventricles ; pathology ; Male ; Placental Insufficiency ; pathology ; Pregnancy ; Retrospective Studies ; Ultrasonography, Prenatal