<b><i>Introduction:</i></b> Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. <b><i>Case presentation:</i></b> We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (>90-97th centile). Next-generation sequencing identified a mutation in the <i>ARID1B</i> gene. <b><i>Discusion:</i></b> Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate therapies for this population are needed to optimize growth and intellectual potentials.
Introduction. Epilepsy is one of the most common neurological disorders worldwide. In most cases, epilepsy can be well managed. However, there is a number of patients who do not respond well enough to common medical treatments; a situation known as pharmacoresistant epilepsy. It can be caused by mechanisms that may involve environmental and genetic factors, as well as disease or drug related factors. Case presentation. Herein we present a case report of a six-year-old girl who has been diagnosed with pharmacoresistant epilepsy, characterized by generalized and focal seizures while she was on two antiepileptic drugs. Molecular testing, with Next Generation Sequencing (NGS) technique, revealed mutations at KCNB1 and RELN genes.
Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus – reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the <i>SMS</i> gene,c.334C>G (p.Pro112Ala), in a 4-year-old boy, who initially developed hypotonia, delayed motor skills, and subsequently epilepsy. This variant in <i>SMS</i> was found to be de novo. To the best of our knowledge, this novel <i>SMS</i> gene variant has never been previously reported in disease-related variation databases, such as ClinVar or HGMD.
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