Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy.

Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum of Wilson's disease is wide and initial findings of the disease depend on the organ involved. Neurologic disorders can develop insidiously or precipitously with intention tremor, dysarthria, rigid dystonia, Parkinsonism, deterioration in school performance or behavioral changes. This article is presenting an 11-yr old boy with chief complaint of falling and upper limb spasm. He referred to the Neurology Department, Ghaem Hospital, Mashhad, northeastern Iran in 2016. His symptoms began from 6 months earlier as mood instability (prolonged spontaneous crying). He was also suffering from occasionally tremor and micrographia. Initial investigations were normal and with diagnosis of depression and psychiatric problems, he had undergone treatment with fluoxetine and risperidone. Wilson's disease should be considered in the diagnosis of all children with psychiatric and musculoskeletal symptoms.

Griscelli syndrome: a case report.

OBJECTIVE: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.

Bilateral submandibular duct rerouting: assessment of results on drooling in cerebral palsy cases.

OBJECTIVES: Drooling is a physiological phenomenon in infants which becomes unusual and even pathologic after 18 months of age. Cerebral palsy (CP), the most common etiology for physical disability, mostly occurs in cases of normal-intelligence kids who are socially active and therefore their disorders require special attention. One of the major problems kids with CP face is excessive drooling and several therapeutic methods have been suggested to treat this problem. In this study described herein, bilateral submandibular duct rerouting (BSMDR) surgery was performed to investigate its effect on drooling in children with CP. METHODS: From March 2007 to April 2011, 16 children aged 6-16 years old with cerebral palsy who suffered from excessive drooling were recruited. A thorough physical examination was performed and a questionnaire was completed for each case. Those who met the inclusion criteria and provided an informed consent were selected for BSMDR surgery. They were followed-up twice, 10 days and 6 months after the operation to evaluate the degree of drooling or other possible side effects of the surgery. RESULTS: Sixteen patients entered the study and underwent surgery. On the first follow-up visit 87.50% presented overall improvement, of which 56.25% showed good to excellent improvement in contrast to 31.25% who exhibited fair improvement. On the second follow-up an overall improvement was observed in 81.25%, of which 43.75% showed good to excellent improvement compared to 37.50% with fair improvement. CONCLUSION: Considering that during both the first and second follow-up visit only two cases (12.5%) did not respond to treatment, it could be concluded that BSMDR surgery is an effective treatment for reducing drooling in CP children.