Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum.

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10.

BACKGROUND: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS: Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. RESULTS: Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. CONCLUSIONS: Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.

Traditional postpartum practices of women and infants and the factors influencing such practices in South Eastern Turkey.

OBJECTIVE: to gain an understanding of traditional postpartum practices for women and babies, and to investigate the factors influencing such practices. DESIGN: descriptive study. SETTING: Maternity and Children's Hospital in Adiyaman city, Turkey. PARTICIPANTS: 273 women who gave birth at the Maternity and Children's Hospital in Adiyaman city from March to June 2004. FINDINGS: more than half of the 273 women (55.7%) were aged between 25 and 32 years (mean 27.85, standard deviation [SD] 5.45). A total of 22.3% of women were illiterate, and most were unemployed. The most popular practices among new mothers were eating a kind of dessert, called 'Bulamaç' (82.8%). A number of women (69.6%) drank a mixture of grape molasses and butter, 64.5% had their abdomen tightly wrapped, 62.6% were not left alone at home, and more than half of the women (57.9%) avoided sexual intercourse for 40 days after giving birth. Nearly, half of the women (45.4%) fed their babies with water containing sugar just after the birth, and 77.1% of women kept their babies' umbilical cord in a special place. Afterwards, the mothers threw the cords into a river or they buried them in the grounds of a mosque or a school. Most of the mothers (89%) reported that they covered their babies with a yellow cloth in order to protect them from jaundice. A relationship between traditional postpartum practices and demographic characteristics of women was observed. The women's mothers and mothers-in-law (66.7%) usually encouraged such practices. KEY CONCLUSIONS: postpartum care of women and their babies are important cultural practices. Some of these practices may have harmful effects on women and their babies. IMPLICATIONS FOR PRACTICE: it is important to gain an understanding of cultural beliefs and traditional practices relating to the postpartum care of women and their babies. Midwives and nurses should discuss these findings and their implications when they educate new mothers and their families about contemporary methods of postnatal maternal and infant care.

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage, and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal excitability. Heterozygous mutations in KCNMA1 were first illustrated in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recent research has established homozygous KCNMA1 mutations accountable for the phenotype of cerebellar atrophy, developmental delay, and seizures. CASE REPORT: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal­cerebellar tract atrophy. CONCLUSION: This report extends the KNCMA1 mutation phenotype with a patient who carries a novel frameshift variant, presenting with both the gain- and loss-of-function phenotypes along with spinal tract involvement as a novel characteristic.

Relationship between the corpus callosum and neurocognitive disabilities in children with NF-1: diffusion tensor imaging features.

PURPOSE: Mild neurocognitive disabilities are commonly observed in children with neurofibromatosis type 1 (NF-1). Enlargement of the corpus callosum (CC) is one of the findings in NF-1, but the pathogenesis has not yet been clarified. In this study, we investigated whether diffusion tensor imaging (DTI) features of CC differed between children with NF-1 and healthy control subjects, and we tried to evaluate the association between the microstructural integrity of CC and neurocognitive disabilities, based on apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values. MATERIALS AND METHODS: The study population consisted of 37 children with NF-1 and 31 healthy controls. Midsagittal CC surface area measurements were obtained from volumetric sagittal T1-weighted turbo spin echo images. FA and ADC values were obtained from the genu and splenium of CC. The results were compared to that of controls. The correlations between neurocognitive test results and measurements of ADC, FA, and surface areas of midsagittal CC in NF-1 patients were investigated. RESULTS: Total CC area in children with NF-1 was significantly larger than healthy controls. ADC values obtained from the genu of CC were significantly higher in NF-1 children. A negative correlation was observed between the ADC values of the genu of the CC and the arithmetic and digit span scores and between the FA values of the genu and coding scores in children with NF-1. CONCLUSION: The DTI changes in the genu of CC in children with NF-1 may indicate subtle structural damage, although conventional MRI is normal. ADC and FA changes in the genu may be due to loss of axonal integrity and vasogenic-like edema in the axons responsible for some intellectual functions. DTI may help clarify the underlying pathophysiology of CC changes in relation to neurocognitive function disorders in children with NF1.

Clinical Significance of Human Metapneumovirus in Refractory Status Epilepticus and Encephalitis: Case Report and Review of the Literature.

Encephalitis is a complex neurological disease that is associated with significant morbidity and mortality, and the etiology of the disease is often not identified. Human metapneumovirus (hMPV) is a common cause of upper and lower respiratory tract infections in children. Few reports are available showing possible involvement of hMPV in development of neurologic complications. Here, we describe an infant, the youngest case in literature, with refractory status epilepticus and severe encephalitis in whom hMPV was detected in respiratory samples and review diagnostic workup of patient with encephalitis.