Genoa Syndrome and Central Diabetes Insipidus: A Case Report

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone−shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus

Clinical and imaging clues of arteriopathy-Related pediatric arterial ischemic stroke: A single center experience

Background and Purpose: Arteriopathy is a common etiology for childhood arterial ischemic stroke (AIS). In this study, we aimed to address clinical, demographic, and neuroimaging characteristics and the reversibility of vasculopathy in patients with childhood stroke due to arteriopathy by classifying them according to Childhood AIS Standardized Classification and Diagnostic Evaluation (CASCADE) criteria. Methods: We included 15 patients with AIS due to arteriopathy presented between 2013 and 2018. All patients were diagnosed and followed up using magnetic resonance imaging (MRI) studies. All acute AIS patients were classified by acute CASCADE criteria (1–4). Moreover, each group was categorized according to the chronic CASCADE criteria, including progressive, stable, reversible, and indeterminate courses. Results: In the study population, CASCADE 2 patients were the most common group, and basal ganglia involvement was the most common involvement in CASCADE 2 patients. Of CASCADE 2 patients, 71.4% received steroids, which was compatible with a favorable outcome. In the study, trauma was present in 33.3% of patients, 60% of which was related to CASCADE 4. In the control visit on month 24, there were neuromotor sequelae of 60%, including hemiparesis, facial paralysis, and decreased fine motor skills; furthermore, the recurrence rate was 20%. Conclusion: We strongly emphasize that arteriopathy should be kept in mind in school-age children presenting with hemiparesis and headache. Moyamoya disease must be considered in the differential diagnosis with anterior circulation involvement, while focal cerebral arteriopathy (FCA) in patients with basal ganglia involvement was detected on MRI and dissection in the patients with a history of head-neck injury. We think that steroids have positive influences on neurologic prognosis in patients with FCA