Fetal angiotensin II receptor antagonist exposure is associated with major complications and even death when administered during pregnancy. Neonates frequently require intensive care treatment, and mortality is high. Despite this well-known risk potential, a considerable number of women still receive angiotensin II receptor antagonists during pregnancy to treat arterial hypertension. Although c...

Case presentation: Patient was the first child of non-consanguineous parents whose father healthy, but mother had mild intellectual deficiency and spastic paraparethic gait that been attributed to cerebral palsy. At birth he presented congenital talipes equinovarus. He began crawl at 1yo never able walk independently despite orthopedic feet correction. 1yo, leukocoria in left eye noticed. Bilat...

Lipoic acid is an essential prosthetic group of four mitochondrial enzymes involved in the oxidative decarboxylation of pyruvate, α-ketoglutarate, and branched chain amino acids and in the glycine cleavage. Lipoic acid is synthesized stepwise within mitochondria through a process that includes lipoic acid synthetase. We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an ind...

OBJECTIVE: To describe 6 patients with less than 3 years of age that were diagnosed with Prader-Willi syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and minor abnormalities of hands and feet. PWS is a neurobehavioural disorder characterized by two distinct phases; in the first, the neonate presents variable degree of hypotonia, feeding problems with none or poor sucking;...

Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between ...

BACKGROUND TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with...

Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression imprinted genes within 15q11-q13 region. It characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia feeding difficulties, which in later stages childhood progress to hyperphagia, obesity, endocrine dysfunctions. ...

Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia, muscle weakness and respiratory involvement. Its most severe form, SMA type 1, starts before 6 months of life has high mortality due ventilatory failure. Nusinersen, first approved treatment for SMA, an antisense oligonucleotide intr...

Prader-Willi syndrome (PWS) is a genetic disease caused by the loss of expression of genes of paternal origin in the region 15q11--q13 of chromosome 15. The main characteristics of the syndrome include neonatal hypotonia, feeding problems in infancy, characteristic facies, intellectual disability, behavioral changes, GH deficiency, hypogonadism, and hyperphagia. Hyperphagia leads to the develop...

A 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly (Figure 1). Neuroimaging showed mac...