Smith-Lemli-Opitz syndrome: Bosnian and Herzegovinian experience

The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.

Early surgical intervention for structural infantile spasms in two patients under 6 months old: a case report

Background Infantile spasms (IS) are the most common childhood epileptic encephalopathy. Focal cortical dysplasia (FCD) and gray matter heterotopias (GH) are common structural causes of IS. The recommended first-line treatment for IS patients with structural causes is surgical intervention, according to the International League Against Epilepsy (ILAE) commission guidelines. However, there is currently no consensus on appropriate timings of surgery. Case presentations Two structural IS cases are presented here: one was caused by FCD, and the other by GH. Both patients exhibited recurrent seizures at the age of 2 months, had poor responses to various antiepileptic drugs (AEDs) and displayed severe mental and motor developmental retardation. Seizure types included focal seizures and spasms. Brain magnetic resonance imaging showed abnormal gray signal or suspicious FCD lesions that coincided with the origin of the focal seizures. The patients underwent lesion resection before the age of 6 months. Follow-up observation showed that seizures of both patients were completely controlled several days after the surgery. All AEDs were gradually reduced in dosage within 1 year, and the mental and motor development almost returned to normal. Conclusion Early resection of lesions in structural IS patients has benefits of effectively controlling convulsions and improving developmental retardation. Infants at several months of age can well tolerate craniotomy, and their cognitive development is more likely to return to normal after early surgery.

A rare coincidence: the long QT syndrome and cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome is a genetic anomaly characterised by craniofacial dysmorphia, developmental retardation, skin lesions, mental retardation/learning disability, and cardiac malformations. Cardio-facio-cutaneous syndrome rarely causes arrhythmias and has not been previously associated with long QT in the literature. With this report, it was aimed to draw attention to a different presentation of the long QT syndrome.

Development of lip closing function during taking food into the mouth in children with Down syndrome

Children with Down Syndrome (DS) show developmental retardation of gross motor function including acquisition of oral movements related to eating and swallowing. To characterize the process of development/acquisition of eating/swallowing function of children with DS, interlabial pressure (IP) during taking food into the mouth was assessed. This study included 99 children with DS (birth to 4 year-old), and 112 age-matched control children showing typical development. IP during taking food into the mouth was measured as an objective index of lip closing function. The system for measuring IP during taking food into the mouth consisted of a strain gauge-pressure sensor connected to a strain-measuring device, which sent data to a personal computer installed with electromagnetic oscillograph software to display pressure waveforms. The DS and typically developing children were grouped into each age group and the data were compared between matched-age groups. IP during taking food into the mouth, pressure-time (PT), variation coefficient (VC) of IP during taking food into the mouth and VC of PT were analyzed using the unpaired t-test. Analyses showed a significantly higher IP during taking food into the mouth in the DS population than in the typically developing children in the 2 and 3 year old (P = .042 and .049, respectively) groups. No significant difference was observed between the DS and typically developing groups with respect to PT, VC of IP during taking food into the mouth or VC of PT for any age group. Children with DS showed a process of acquisition of lip closing function during taking food into the mouth similar to the process found in typically developing children, even though children with DS experience developmental retardation in gross motor and cognitive functions.