Psicopatología asociada al complejo Dandy Walker: descripción de un caso / Psychopathology Associated with Dandy Walker Complex: A Case Description

La malformación de Dandy Walker (DW) es una malformación cerebelosa asociada a múltiples déficits cognitivos, alteraciones psicopatológicas y alteraciones motoras. Presentamos el caso de un paciente afectado de esta malformación y derivado a la unidad de salud mental infantil por presentar psicopatología asociada. Realizamos una revisión sobre la epidemiología, la clínica, el pronóstico y la comorbilidad propia de esta malformación así como sobre la psicopatología asociada a la patología cerebelosa en su conjunto, incluyendo el síndrome cerebeloso cognitivo-afectivo de Shamahmann y Sherman. Por último, incluimos la descripción del caso y establecemos el diagnóstico diferencial a partir de la historia del paciente, la exploración del estado mental y el análisis de las exploraciones complementarias (radiológicas y neuropsicológicas)

Dandy Walker (DW) malformation is a cerebelar malformation associated with multiple cognitive deficits, psychopathological alterations and motor disturbances. We present the case of a patient affected by this malformation who was referred to the child mental health unit. We conducted a review on the anatomy, epidemiology, clinical presentation, prognosis and comorbidity of this malformation as well as on the psychopathology associated with cerebelar pathology as a whole, including Shamahmann and Sherman's cognitive-affective cerebellar syndrome. Finally, we present the case description and establish the differential diagnosis from the patient's history, the mental state examination and complementary examinations (neuroimaging and neuropsychological tests)

A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.

BACKGROUND: Pettigrew syndrome (PGS) is a rare X-linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP1S2 mutations. METHODS: This study systematically analyzed clinical features and genetic information of a Chinese family with AP1S2 variation, and reviewed previously reported literatures with the same gene variation. RESULTS: We identified a new c.1-1 G>C mutation in AP1S2 gene from a four generation family with seven affected individuals and found the elevated neuron-specific enolase (NSE) in a patient. We summarized the clinical manifestation of 59 patients with AP1S2 mutation. We found that pathogenic point mutations affecting AP1S2 are associated with dysmorphic features and neurodevelopmental problems, which included highly variable mental retardation (MR), delayed in walking, abnormal speech, hypotonia, abnormal brain, abnormal behavior including aggressive behavior, ASD, self-abusive, and abnormal gait. Patients with splice site mutation were more likely to lead to seizures. By contrast, patients with nonsense mutations are more susceptible to microcephaly. CONCLUSION: Our findings suggest AP1S2 mutations contribute to a broad spectrum of neurodevelopmental disorders and are important in the etiological spectrum of PGS.

Neuropsychological Function in a Case of Dandy-Walker Variant in a 68-Year-Old Veteran.

Dandy-Walker syndrome (DWS) is a congenital brain malformation that is characterized by partial or complete agenesis of the cerebellar vermis and cystic dilatation of the 4th ventricle that shifts ventrolaterally to displace the cerebellar hemispheres. This case is a 68-year-old male veteran with complaints of new-onset cognitive disorder who was found to have previously unsuspected DWS on head computed tomography. This is one of the first case studies to present complete neuropsychological test results in a veteran with DWS. Despite the level of abnormality on imaging, the veteran functioned well until onset of mild cognitive impairments in late adulthood.

Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome.

UNLABELLED: For patients with comorbid complex posttraumatic stress disorder (PTSD) and psychotic disorder, trauma-focused therapy may be difficult to endure. Phase-based treatment including (a) stabilization, (b) trauma-focused therapy, and (c) integration of personality with recovery of connection appears to be the treatment of choice. OBJECTIVE: The objective of this article is to describe and evaluate the therapeutic process of a single case from a holistic perspective. METHOD: We present a case report of a 47-year-old woman treated for severe complex PTSD resulting from repeated sexual and physical abuse in early childhood and moderate psychotic symptoms stemming from Dandy Walker Syndrome with hydrocephalus. RESULTS: The patient was treated with quetiapine (600-1,000 mg) and citalopram (40 mg). Stabilization consisted of intensive psychiatric nursing care in the home and stabilizing group treatment for complex PTSD. After stabilization, the following symptom domains showed improvement: self-regulation, self-esteem, assertiveness, avoidance of social activities, and negative cognitions. However, intrusions and arousal persisted and were therefore subsequently treated with prolonged imaginary exposure that also included narrative writing assignments and a final closing ritual. This intensive multidisciplinary, phase-based approach proved effective: All symptoms of complex PTSD were in full remission. Social integration and recovery were promoted with the reduction of polypharmacy and the provision of social skills training and lifestyle training. CONCLUSION: The present case shows a phase-based treatment approach with multidisciplinary collaborative care to be effective for the treatment of a case of complex PTSD with comorbid psychotic disorder stemming from severe neurological impairment. Replication of this promising approach is therefore called for.

Reduction cranioplasty for macrocephaly caused by giant occipital cystic lesion.

Reduction cranioplasty for macrocephaly improves patients' quality of life both functionally and aesthetically. However, it is indicated for only a small number of patients because of the risks of complications. Thus, it is rarely performed, and not many reports have been published. In Dandy-Walker syndrome, there is often a posterior fossa cyst continuous with the fourth ventricle. We report here a case of scaphocephalic macrocephaly because of such a cystic lesion. The patient underwent a single-stage surgery with plication of the cyst wall and posterior reduction cranioplasty. This procedure achieved good results.

Neuropsychological and behavioural phenotype of Dandy-Walker variant presenting in chromosome 22 trisomy: a case study.

In this study, a case of Dandy-Walker variant syndrome associated with trisomy 22 in a 17-year-old man is described. This is the first account of this combination in a person surviving into adulthood, and the neuropsychological and behavioural presentation is described in detail and a clinical formulation is presented for the benefit of researchers and clinicians.

New-onset psychosis associated with dandy-walker variant in an adolescent female patient.

The relationship between psychotic disorders, in particular, schizophrenia, and neurodevelopmental abnormalities has been conceptualized in the latest literature. Dandy-Walker variant, defined by cystic dilatation of the fourth ventricle and hypoplasia of the inferior portion of the vermis without enlargement of the posterior fossa, is a distinctive entity believed to represent a mild subtype of Dandy-Walker complex. The authors hypothesize a correlation between new onset of psychosis and cerebellar abnormalities in an adolescent patient.

Clinical significance of isolated mega cisterna magna.

OBJECTIVE: The prevalence and clinical significance of isolated mega cisterna magna in both fetuses and adults is not yet well defined. It is therefore difficult to provide reliable parental counseling in cases of a fetal sonographic diagnosis of this anomaly. The aim of the present study was to, determine the cognitive profile of adults with isolated mega cisterna magna. METHODS: We reviewed 19,301 consecutive CT/MRI of the brain. Isolated mega cisterna magna was observed in 49 cases. A battery of neuropsychological tests was performed in 18 adults with this anomaly and in 18 controls who had no brain anomaly on CT/MRI. RESULTS: Subjects with isolated mega cisterna magna had a lower performance on memory tasks [RAVLT saving score (0.8 +/- 0.2 vs. 1.02 +/- 0.2, P = 0.003)] and verbal fluency [phonemic fluency (9.4 +/- 4.5 vs. 13.6 +/- 5.3, P = 0.02), semantic fluency (19.8 +/- 5.8 vs. 24.4 +/- 7.5, P = 0.05)]. They did not differ from controls in regard to the Raven similarity tests indicating that this brain anomaly is not associated with impairment of general cognitive abilities. CONCLUSION: Adults with isolated mega cisterna have an overall normal cognitive functioning but may score inferior to controls on some parameters of memory and verbal fluency. Although application of adult cases to the fetuses is not well established, this information might be of value in parental counseling in cases of a fetus with this anomaly.

Posterior fossa lesions associated with neuropsychiatric symptomatology.

We reviewed 7 cases with posterior fossa structural abnormalities (3 tumors, 2 megacisterna magna and 2 Dandy-Walker syndrome) presenting with neuropsychiatric symptomatology. Derangement in the balance of dopamine, serotonin and noradrenergic networks has been implicated in the pathogenesis of schizophrenia, affective and even personality disorders. Disruption of the cerebellar output to mesial dopaminergic areas, locus coeruleus and raphe nuclei, or deafferentation of the thalamolimbic circuits by a cerebellar lesion may lead to behavioral changes. Seven patients (pts) (comprising 4 men and 3 women with mean age 22 years) were diagnosed as suffering from psychosis (2 pts), major depression (1 pt), personality disorders (2 pts) and somatoform disorders (2 pts) (DSM-IV criteria). Brain CT scan (7 pts) and MRI (4 pts) revealed tumors of the posterior fossa (2 pts), megacisterna magna (2 pts) and Dandy-Walker variant (2 pts). In one patient a IVth ventricle tumor was removed in childhood.

Relationship between cerebellar appearance and function in children with Dandy-Walker syndrome.

In children with Dandy-Walker syndrome (DWS), the relationship between cerebellar appearance on imaging and either cerebellar function or intellect is unknown. To evaluate those relationships, we retrospectively studied 20 patients with DWS treated in our institution between 1978 and 1994. The patients were treated with ventriculoperitoneal, cystoperitoneal, or ventriculocystoperitoneal shunts. Intellectual and cerebellar function were determined from neurological and developmental testing. Cerebellar development was evaluated by measuring cerebellar and posterior fossa volumes from computed tomography images; the ratio of cerebellar size to posterior fossa size was considered to reflect cerebellar development. The cerebellar function was normal in 50% and the intellectual function in 45% of the patients. There was no correlation between cerebellar size and intellectual development or cerebellar function. There was also no correlation between the type of shunt and the subsequent cerebellar size. We conclude that there is no relationship between the cerebellar development evident on computed tomography scans and the cerebellar or the intellectual function of children with DWS. We, therefore, infer that treatment of Dandy-Walker cysts with posterior fossa shunts is unlikely to enhance the cerebellar function.

L-dopa resistant parkinsonism in an adult woman with a cyst in the posterior fossa.

We report a case of a woman with L-Dopa resistant asymmetrical parkinsonism with a posterior fossa cyst compressing the lower brainstem on MR. She did not show improvement in any of her symptoms after cysto-cardiac derivation. It was not possible to delineate if this was a case of a new malformative syndrome or the coincidence of two different disorders.

External obstructive hydrocephalus: a study of clinical and developmental aspects in ten children.

At this time there are few published cases on this problem, but we have found that the syndrome does seem to correct itself with time. As the patients become stronger and their age increases, they catch up with their peer group. A 1978 study by Robertson documented five of six children attaining normal levels of skills appropriately. In another recent study, Ment researched eighteen infants with seventeen eventually developing within normal limits. Shunting of CSF through surgical intervention does not seem to be needed. We hope to continue our study and follow these children on a long-term basis, seeking to find the total picture of this seemingly benign syndrome.