Quality of Life and Related Factors in Patients Diagnosed with Mucopolysaccharidosis and Their Caregivers.

Objectives: Quality of life (QoL) is directly associated with physical-psychological well-being, family and environmental factors in patients with Mucopolysaccharidosis (MPS). The present study aims to investigate the factors affecting QoL in both MPS patients and their caregivers.

Methods: The sociodemographic characteristics, clinical findings, and special needs of 37 patients with MPS were questioned, among which 28 pediatric patients were evaluated for QoL using the KINDL-parents scale.

Evaluating the gonads of left-handed children using ultrasonography and comparing the findings with those of right-handed ones.

Unlabelled: Hand use varies according to which brain hemisphere is dominant. Early androgen exposure causes right hemisphere dominance. This study is aimed at comparing the testes and ovary sizes of healthy left-handed girls and boys with those of healthy right-handed children and investigating whether or not lateralization affects the gonads.

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.

Background: Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in the MAN2B1 gene. It manifests with clinical features, including intellectual disability, hearing impairment, coarse facial appearance, skeletal anomalies, immunodeficiency, central nervous system involvement, psychiatric comorbidities, corneal opacity, and hepatosplenomegaly. This multicenter study assesses the long-term outcomes of individuals diagnosed with alpha-mannosidosis, examining demographic, clinical, laboratory, and molecular characteristics.

Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in gene: case report and review of literature.

Objectives: Neuronal ceroid lipofuscinosis type 11 (NCL11) is a rare disease that presents with progressive cognitive decline, epilepsy, visual impairment, retinal atrophy, cerebellar ataxia and cerebellar atrophy. We present herein a case of NCL11 in a patient diagnosed with neuromotor developmental delay, epilepsy, bronchiolitis obliterans and hypothyroidism.

Case Presentation: A 4-year-old male patient was admitted to our clinic with global developmental delay and a medical history that included recurrent hospitalizations for pneumonia at the age of 17 days, and in months 4, 5 and 7.

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

Objectives: In the present study, we aimed to evaluate the genotype-phenotype relation in patients with biotinidase enzyme deficiency based on repeated biotinidase enzyme measurements.

Methods: The hospital file information of patients with biotinidase, enzyme deficiency was assessed retrospectively, and the relationship between the gene mutations analysis results and biotinidase enzyme activity following the first and repeated enzyme activity assessments was analyzed.

Results: One-hundred-ten patients were included.

Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.

Neuronal ceroid lipofuscinosis (CLN) 7 typically presents with motor and cognitive decline, seizures (myoclonus) and vision loss. Atypical manifestations such as, ataxia, Rett-like findings, microcephaly, personality disorders, extrapyramidal symptoms, stereotypical hand movements and autistic behaviors had been reported. A 7-year-old male patient referred with the diagnosis of sepsis and a medical history of afebrile seizure at the age of 3 years, and sleep problems and aggressive behavior at the age of 4 years.

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.

Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypotonia-cystinuria syndrome and diagnosed with megaconial congenital muscular dystrophy and cystinuria.

Case Presentation: A 16-month-old male patient was admitted with complaints of restlessness and body laxity.

Sluggish cognitive tempo, eating habits, and daytime sleepiness in obese adolescents.

Objective: Rates of obesity have risen steeply in the western world in all age groups. Sluggish Cognitive Tempo (SCT) is characterized by a cluster of symptoms. Daytime sleepiness, commonly seen in obesity, may share a similar origin with sleepiness and daydreaming symptoms of SCT.

Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency.

3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency is the most frequent organic aciduria detected in newborn screening programs. It demonstrates a variable heterogeneous clinical phenotype, ranging from neonatal onset with severe neurological disorders to asymptomatic adult forms. Herein, we report the first 2 related cases of 3-MCC deficiency presenting with intracranial calcification in the literature.

Thiol-Disulfide Homeostasis, Serum Ferroxidase Activity, and Serum Ischemia Modified Albumin Levels in Childhood Iron Deficiency Anemia.

The aim is to compare the markers of oxidative stress in iron deficient children to that of non-anemic children. Serum thiol-disulfide level, ferroxidase activity and ischemia-modified albumin (IMA) levels were compared between iron deficiency anemia (IDA) and non-anemic children. A total of 117 children, 66 with IDA and 51 non-anemic children were included in the study.

Thiol-Disulfide Homeostasis, Serum Ferroxidase Activity, and Serum Ischemia Modified Albumin Levels in Neonatal Jaundice.

Aim: Hyperbilirubinemia causes oxidative stress.

Method: We evaluated three oxidative stress markers in hyperbilirubinemic neonates (native/total thiol levels, serum ferroxidase activity and ischemia modified albumin (IMA), comparing these levels to levels in a control group to determine which indicators were the most sensitive.

Results: Serum from 124 term infants (67 with pathologic jaundice and 57 controls) were evaluated.

Dry Eye Syndrome and Allergic Conjunctivitis in the Pediatric Population.

Purpose: To assess the comorbidity of dry eye syndrome (DES) and changes in corneal curvature in children with allergies.

Materials And Methods: This prospective, comparative, and observational interventional study included 49 patients, who presented to the Ophthalmology Clinic of a State Hospital in Turkey. There were 25 patients with clinically diagnosed seasonal allergic conjunctivitis (AC) (with complaints of itching and papilla formation of conjunctiva; AC group) and 24 healthy children (control group).

Serum thyroid hormone profile and trace elements in children receiving valproic acid therapy: a longitudinal and controlled study.

Valproic acid (VPA) may affect thyroid hormone profile, causing alteration in serum trace elements concentrations. The aim of this study was to prospectively investigate this relationship in children receiving VPA monotherapy for a period up to 6 months. Serum thyrotropin (TSH), free thyroxine (FT4), free triiodothyronine (FT3), thyroxine (T4), triiodothyronine (T3), thyroglobuline (TG), selenium (Se), zinc (Zn), and copper (Cu) levels were evaluated at baseline and at the 6th month in all the patients and in the control group.

Unusual complication in a child with lightning strike: cerebral salt wasting.

Several case reports have presented various neurological complications caused by lightning. However, there was no report related to cerebral salt wasting caused by lightning injury. We described a patient with lightning strike, who was subsequently diagnosed with cerebral salt wasting.