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Revista Chilena de Pediatria 2016Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation.
INTRODUCTION
Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation.
OBJECTIVE
describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management.
CASE REPORT
A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome.
CONCLUSION
Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented.
Topics: Anticonvulsants; Child; Dandy-Walker Syndrome; Humans; Male; Prognosis; Seizures; Tomography, X-Ray Computed
PubMed: 26976079
DOI: 10.1016/j.rchipe.2016.01.011 -
Journal of Spine Surgery (Hong Kong) Dec 2017This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient's case notes was...
This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient's case notes was undertaken and the limited literature on this subject reviewed. The 13-year-old girl presented with a stiff right thoracic scoliosis typical of adolescent idiopathic scoliosis. The scoliotic segment also presented with significant lordosis. She had facial and truncal dysmorphism characteristic of Dandy-Walker complex and her brain images confirmed the diagnosis. She underwent scoliosis surgery by the posterior approach uneventfully. In conclusion scoliosis is hitherto unreported in the Dandy-Walker complex. The results of intervention appear satisfactory.
PubMed: 29354751
DOI: 10.21037/jss.2017.10.03 -
Medicine Nov 2022Dandy-Walker syndrome (DWS) is a group of brain malformations which occasionally accompanied by psychotic symptoms. The co-occurrence of DWS and epilepsy in children is... (Review)
Review
BACKGROUNDS
Dandy-Walker syndrome (DWS) is a group of brain malformations which occasionally accompanied by psychotic symptoms. The co-occurrence of DWS and epilepsy in children is quite rare.
CASE DESCRIPTION
We reported a 14-year-old male who presented with a 8-month history of inconsistent upper limb tremor and accidental seizure. The MRI showed the typical alterations of DWS: cystic dilatation of the fourth ventricle, vermian hypoplasia, enlarged posterior fossa. He received the ventriculoperitoneal shunting (VPS) placement for hydrocephalus and had a symptom-free period for 8 days. Then he experienced a recurrence of involuntary upper limb tremor and behavior disturbance after decreasing the pressure of cerebrospinal fluid (CSF) from 150 to 130 mm Hg. After being treated with Olanzapine 10 mg/d, Clonazepam 3 mg/qn and Valproate acid (VPA) 500 mg/bid for nearly a month, his mental status and psychotic symptoms fluctuated. A search of Pub Med showed little report of hydrocephalus and DWS comorbidity with seizure and psychosis. Here we presented the whole process of a rare disease from the very beginning with all his symptoms, examinations and treatments.
CONCLUSION
VPS placement surgery at an earlier stage may be an effective way to avoid inevitable brain damage so as to improve the clinical outcomes for patients with DWS. Continued treatment with regard to DWS condition may include shunt placement, but it mainly focus on developmental concerns, with occupational and physical therapy along with ongoing supportive psychotherapy to improve the coping skills and quality of life.
Topics: Humans; Male; Child; Adolescent; Dandy-Walker Syndrome; Quality of Life; Tremor; Hydrocephalus; Seizures
PubMed: 36401431
DOI: 10.1097/MD.0000000000031421 -
Clinical Radiology May 2024The prominent retrocerebellar cerebrospinal fluid (CSF) space can be frequently encountered on paediatric neuroimaging studies. In cases involving abnormal vermian... (Review)
Review
The prominent retrocerebellar cerebrospinal fluid (CSF) space can be frequently encountered on paediatric neuroimaging studies. In cases involving abnormal vermian development where imaging does not align with the established criteria of Dandy-Walker malformation (DWM), the term "Dandy-Walker variant or continuum" has been historically employed to describe the aberrant posterior fossa development. Instead, the emphasis is on a more elaborate description of the findings in the posterior fossa. Moreover, combining the findings in the supratentorial brain can occasionally predict certain neurogenetic disorders that mimic Dandy-Walker phenotype. The present review demonstrates and differentiates the imaging features of various entities that result in an enlarged retrocerebellar CSF space, such as inferior vermian hypoplasia (IVH) and several neurogenetic conditions.
Topics: Humans; Child; Dandy-Walker Syndrome; Magnetic Resonance Imaging; Neuroimaging; Head
PubMed: 38429135
DOI: 10.1016/j.crad.2024.01.025 -
Radiology Case Reports Oct 2022Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar...
Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign. It may present with different organ involvement or with other neurological alterations such as Dandy-Walker syndrome. Joubert syndrome with dandy walker syndrome is called Joubert-Plus syndrome, an exceedingly rare entity. Dandy-Walker syndrome is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Atretic cephalocele is another rare diagnosis which is characterized by a herniation of intracranial contents through a skull defect. Herein, we present a case of a 6-month-old patient who presented with floppiness and a scalp nodule. After further evaluation, he was diagnosed with Joubert-Plus syndrome with an atretic cephalocele.
PubMed: 35928591
DOI: 10.1016/j.radcr.2022.07.038 -
ENeurologicalSci Dec 2023The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously...
The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously reported cases involved individuals under the age of 37 months, with prenatal or birth diagnoses. Additionally, most of these cases displayed a limited life expectancy and experienced poor developmental outcomes. In this report, we present the first-ever instance of an 11-year-old male patient, previously undiagnosed with Dandy-Walker syndrome, who presented with acute intracranial hypertension. Magnetic Resonance Imaging revealed an active hydrocephalus caused by a Dandy-Walker malformation. The patient's condition was effectively managed through the implementation of a ventriculo-cysto-peritoneal shunt. This case highlights the coexistence of Dandy-Walker syndrome and Down syndrome in an asymptomatic young patient. Furthermore, it demonstrates that active hydrocephalus in such cases can be successfully addressed through either endoscopic third ventriculostomy or ventriculo-cysto-peritoneal shunt procedures.
PubMed: 37928178
DOI: 10.1016/j.ensci.2023.100480 -
Noro Psikiyatri Arsivi Sep 2017Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and...
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these cases; and detailed examinations, including cranial imaging, would be beneficial in bipolar cases with early onset, unresponsiveness to treatment, presenting atypical symptoms, mental retardation, and developmental delay as well as neurological symptoms and signs.
PubMed: 29033643
DOI: 10.5152/npa.2017.18114 -
Acta Neuropathologica Oct 2021Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and...
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses. This was supplemented by laser capture microdissection and RNA-sequencing of the cerebellar rhombic lip, a transient progenitor zone, to assess the altered transcriptome of DWM vs control samples. Our radiological findings confirm that the cases studied fall within the accepted biometric range of DWM. Our histopathological analysis points to reduced foliation and inferior vermian hypoplasia as common features in all examined DWM cases. We also find that the rhombic lip, a dorsal stem cell zone that drives the growth and maintenance of the posterior vermis is specifically disrupted in DWM, with reduced proliferation and self-renewal of the progenitor pool, and altered vasculature, all confirmed by transcriptomics analysis. We propose a unified model for the developmental pathogenesis of DWM. We hypothesize that rhombic lip development is disrupted through either aberrant vascularization and/or direct insult which causes reduced proliferation and failed expansion of the rhombic lip progenitor pool leading to disproportionate hypoplasia and dysplasia of the inferior vermis. Timing of insult to the developing rhombic lip (before or after 14 PCW) dictates the extent of hypoplasia and distinguishes DWM from CVH.
Topics: Case-Control Studies; Cerebellum; Dandy-Walker Syndrome; Developmental Disabilities; Fetal Development; Fetus; Humans; Infant, Newborn; Nervous System Malformations
PubMed: 34347142
DOI: 10.1007/s00401-021-02355-7 -
BMC Pediatrics Sep 2021Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations.
BACKGROUND
Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations.
CASE PRESENTATION
A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was unremarkable. After admission, she developed dyspnea and severe anemia and was subsequently transferred to the intensive care unit. Magnetic resonance imaging of her brain showed a Dandy-Walker malformation, and metabolic screening indicated methylmalonic acidemia. Thus, she was diagnosed with methylmalonic acidemia and Dandy-Walker malformation. The patient underwent treatment including acidosis correction, blood transfusion, antibiotics, mechanical ventilation and heat preservation. Unfortunately, her condition progressively worsened and she died of metabolic crisis.
CONCLUSIONS
Dandy-Walker malformation may be a clinical manifestation of methylmalonic acidemia. Additionally, the co-existence of methylmalonic acidemia and Dandy-Walker malformation may be an uncharacterized syndrome which needs to be studied further.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Dandy-Walker Syndrome; Female; Humans; Infant; Magnetic Resonance Imaging; Pregnancy
PubMed: 34511063
DOI: 10.1186/s12887-021-02874-y -
Cureus Oct 2023Dandy-Walker Syndrome (DWS) is a rare congenital neurological condition characterized by cerebellar and posterior fossa malformations, often presenting a variable...
Dandy-Walker Syndrome (DWS) is a rare congenital neurological condition characterized by cerebellar and posterior fossa malformations, often presenting a variable clinical spectrum. Common complications include hydrocephalus, necessitating interventions like ventriculoperitoneal (VP) shunts, and endoscopic third ventriculostomy (ETV). We describe the case of a five-month-old infant conceived through in vitro fertilization (IVF), initially presenting with cold-like symptoms, later diagnosed with DWS. The patient underwent VP shunt placement for hydrocephalus management, with subsequent complications requiring shunt revisions and ETV. Vigilant monitoring and timely interventions were crucial for a favorable outcome, highlighting the challenges in diagnosing and managing DWS and the importance of tailored treatment strategies.
PubMed: 37933337
DOI: 10.7759/cureus.46564