Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.

OBJECTIVE: To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature. METHODS: A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId). CONCLUSIONS: Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.

Phospholipase activity in Malassezia furfur pathogenic strains.

The lipophilic dimorphic yeast Malassezia furfur is a common skin commensal and the aetiological agent of pityriasis versicolor. A source of lipids is essential for its growth, and there are already demonstrations of in vitro lipase and lipoxygenase production. In eight wild strains, isolated from patients with pityriasis versicolor, we showed a phospholipase activity using a medium containing egg yolk emulsion as the only source of lipids; in this medium M. furfur grows and produces a phospholipase zone. Adding manganese sulphate, an unspecific inhibitor of phospholipase activity, M. furfur does not grow, because the lipophilic fungus cannot utilize the egg yolk as a source of fatty acids. Adding Tween 60 to the same medium, M. furfur also grows in presence of manganese sulphate.

Treatment of alopecia areata with squaric acid dibutylester.

BACKGROUND: Among contact allergens that are frequently used in the treatment of alopecia areata (AA), squaric acid dibutylester (SADBE) stands out for its good tolerability and its mild side effects. METHODS: One hundred and forty-four patients with AA of varying degrees were treated with SADBE. Of these, 71 had AA affecting less than 50% of the scalp, and 73 had a severe form, including 13 patients with alopecia totalis (AT) and two with alopecia universalis (AU). The patients were treated using both traditional and nontraditional methods. RESULTS: In the less severe form, we obtained a 80% rate of regrowth, compared to the 49% of the more severe form including 13 cases of AT and the two of AU. The failure rate was higher for patients with the more severe form (29%) compared to a 7% rate only for patients with mild AA. We also observed four cases of initial regrowth on the side of the scalp opposite to the site of application ('castling phenomenon'). Among those patients who were treated with application of SADBE on the right side of the back, three displayed regrowth on the left side of the scalp, (i.e., on the opposite side) and in an area distant from the site of application; for two patients the regrowth began on the right side of the scalp and one of them also displayed growth of fine hairs in the right dorsal region, the site of application of the compound. CONCLUSIONS: Our data further support the hypothesis of a systemic action of SADBE; however, further confirmation on a larger sample of cases is needed.

Atypical behaviour of specific antitreponemal IgM in active and treated syphilis.

Negative 19S (IgM) test in patients with active untreated syphilis and reactive 19S (IgM) test in a group of patients with treated syphilis are reported. The practical value of IgM test in routine serodiagnosis and monitoring of the treatment of syphilitic infection as well as the theoretical aspects of the IgM reactivity are discussed.

Gardner-Diamond syndrome.

The case of a patient suffering from Gardner-Diamond syndrome is described. Owing to the uncertain etiology, we suggest that the functional platelet defect found may intervene, maintaining and making the ecchymotic lesions worse.

Pancreatic exocrine function in rosacea.

As some rosacea patients complain of gastrointestinal troubles and the administration of pancreatic extracts ameliorates both dyspepsia and skin lesions, the pancreatic exocrine function in 21 subjects affected with rosacea has been investigated by means of the secretin-cerulein infusion test. 21 healthy controls have been studied for comparison. No difference was found between rosacea and control subjects for flow rate, bicarbonate and chymotrypsin concentration and output, while lipase concentration and output was significantly lower in rosacea patients, with a decrease ranging from 18.5 to 66% of normal values. Therefore, a deficient lipase secretion could be responsible, at least partly, for the clinical manifestations of rosacea.