Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants.Materials and methods. Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants.Results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients.Conclusions. Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood

An unusual cause of bilateral scrotal abscess in a preterm infant: Candida albicans

Acute scrotal abscess is a rare condition in neonates. Most of these abscesses were reported to be unilateral and caused by Staphylococcus and Salmonella spp. Herein, we report a bilateral scrotal abscess in a preterm infant and Candida albicans was isolated from the scrotal fluid culture. To our knowledge, this is the first bilateral scrotal abscess in a preterm infant caused by C. albicans. Therefore, this organism must be suspected in differential diagnosis of acute scrotal abscess in neonates, especially in preterm infants

An unusual cause of bilateral scrotal abscess in a preterm infant: Candida albicans

Acute scrotal abscess is a rare condition in neonates. Most of these abscesses were reported to be unilateral and caused by Staphylococcus and Salmonella spp. Herein, we report a bilateral scrotal abscess in a preterm infant and Candida albicans was isolated from the scrotal fluid culture. To our knowledge, this is the first bilateral scrotal abscess in a preterm infant caused by C. albicans. Therefore, this organism must be suspected in differential diagnosis of acute scrotal abscess in neonates, especially in preterm infants

A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare neurodegenerative condition. Major clinical features include progressive dystonia, pigmentary retinopathy, spasticity, and cognitive decline. The typical MRI sign of the disease, known as "eye-of-the-tiger", is what makes differential diagnosis possible

Nosocomial infections in neonatal units in Turkey: epidemiology, problems, unit policies and opinions of healthcare workers

WOS: 000276572900008PubMed ID: 20402067Turkish Neonatal Society Nosocomial Infections Study Group. Nosocomial infections in neonatal units in Turkey: epidemiology, problems, unit policies and opinions of healthcare workers. Turk J Pediatr 2010; 52: 50-57. The epidemiology of nosocomial infections in Turkish neonatal intensive care units (NICUs) shows that nosocomial sepsis is an important problem, especially for very low birth weight (VLBW) infants, and gram-negative agents, particularly Klebsiella species, are still the major causes of nosocomial infections. Sepsis frequency was 6.4%, ranging from 2.1 to 17%, in 16 centers in Turkey. Sepsis frequency was 22% in infants 2500 g. Sepsis-related mortality was 24.4 for 100 sepsis cases, ranging from 0 to 75 for 100 cases. Ventilator-associated pneumonia frequency was 1.7%, catheter-related infection frequency was 0.14% and urinary tract infection frequency was 3.7%. Healthcare workers (HCWs) complain of the inadequacy of some basic facilities and of staffing; however, they are aware of the causes and solutions and are willing to overcome this major health problem. We conclude that Turkish neonatal HCWs are quite optimistic about preventing neonatal nosocomial infections

Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature

Non-immune hydrops fetalis (NIHF) is a challenging entity as it represents the end stage of several different disorders. Renal and genitourinary causes of NIHF are rare and include congenital renal malformations, tumors and ureter-urethra disorders. Herein, two NIHF cases with different renal causes were presented. The first case that had antenatal NIHF was diagnosed neonatal Bartter syndrome. The second case of NIHF with antenatal large cyst in the surrenal gland area required surgery and ectopic renal cyst was diagnosed. To our best of knowledge, these are the first reports of NIHF associated with neonatal Bartter syndrome and ectopic renal cyst in neonates. Although it may be coincidental, these cases suggest that both neonatal Bartter syndrome and unilateral ectopic renal cyst may cause NIHF development in neonates by several different mechanisms. Therefore, these two rare entities should be suspected in cases of NIHF with similar findings

Cushing syndrome related to leukemic infiltration of the central nervous system: a case report and a possible role of LIF

Background: Adrenocorticotropic hormone (ACTH)dependent Cushing syndrome (CS) in the presence of leukemic central nervous system infiltration is very rare