The Effects of 6q26-q27 Terminal Deletion on Intellectual Disability & Brain Malformations and the Genotype/Phenotype Relationship: A Case Report.

Terminal microdeletion of chromosome 6q is a rare syndrome that can result in a spectrum of phenotypes varying from normal intelligence-minimal clinical symptoms to severe neurological defects and developmental delays. The most frequent clinical characteristics include developmental delays prior to and following birth as well as intellectual disability, brain malformations, and facial dysmorphism. These clinical characteristics may not be correlated with the size of the deletion; as many cases have been identified with either minor or major deletions, the genotype-phenotype correlation should be better investigated. To our knowledge, this is the first report of 6q26-q27 chromosome microdeletion in Turkey. In this article, we determine the clinical and genomic characteristics of a 2-year-old female case of 6q26-q27 chromosome microdeletion by investigating the level of development of the patient, brain malformations and dysmorphic characteristics, and ultimately comparing them to other cases reported in literature. Our patient was diagnosed with severe Global Developmental Delays (GDD). Although our case had similar clinical characteristics to corresponding cases in literature, there is a difference in the variety and group of symptoms exhibited.

Methylphenidate-Induced Menorrhagia in Twin Girls.

Objective: Methylphenidate, a psychostimulant agent, is used in first-line psychopharmacological treatment in children and adolescents with attention-deficit/hyperactivity disorder. Common side effects associated with methylphenidate use in children and adolescents are insomnia, anorexia, headache, and nausea. Thrombocytopenia, nasal bleeding and menstrual bleeding disorders are very rarely reported during methylphenidate use. One of the least expected side effects during methylphenidate usage is menorrhagia. Method : In this article, we report methylphenidate monotherapy-induced menorrhagia in two adolescent identical twins. To our knowledge, this is the first report of menorrhagia associated with methylphenidate use in children and adolescents. Results: In both cases, menorrhagia has started after methylphenidate monotherapy and stopped after discontinuation. Other possible etiologies have excluded with clinical and laboratory evaluations. Naranjo Adverse Drug Reaction Probability Score was found 7, indicates probable side effect. Conclusion: Menorrhagia is a rare adverse effect of methylphenidate use and clinicians should be aware of this phenomenon.