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Giuseppa Patti, Marta Giaccardi, Valeria Capra, Flavia Napoli, Giuliana Cangemi, Sara Notarnicola, Sara Guzzetti, Silvia Russo, Mohamad Maghnie, Natascia Di Iorgi
Context: There is little information on long-term natural history of Silver-Russell syndrome (SRS). Objective: To describe the phenotypes and the metabolic status in adults with SRS. Design: Clinical and metabolic evaluations in adults with a molecular diagnosis of SRS. Partecipants: 7Caucasian patients (aged 18 to 46 years, mean age 26.9 years) were studied. Two had chromosome 7 maternal uniparental disomy, 3 had 11p15 loss of methylation and 2 had 11p15 duplication...
March 13, 2018: Journal of Clinical Endocrinology and Metabolism
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
Pınar Yılmazbaş, Gülbin Gökçay, Tijen Eren, Esra Karapınar, Bahar Kural
BACKGROUND AND AIM: The measurement of head circumference provides a valuable anthropometric data for a child's gro- wth during well child visits. There are few studies on the characteristics of macrocephaly(MC) cases diagnosed during well child visits. The aim of this study was to identify the characteristics of children with MC diagnosed during the well-child visits. MATERIALS AND METHODS: This descriptive clinical study was carried out in the well child unit of a medical faculty hospital...
March 2, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Rajiv R Iyer, Carolyn M Carey, S Alex Rottgers, Lisa Tetreault, Nir Shimony, Jennifer Katzenstein, Ernesto Ruas, Gerald F Tuite
OBJECTIVE Infants with severe hydrocephalus and extreme macrocephaly typically undergo CSF diversion early in life, which can result in significant cranial deformity due to CSF overdrainage. In this scenario, overlap of the cranial plates can precede the development of secondary synostosis and/or severe, permanent cranial deformity. As a result, extensive cranial vault remodeling is sometimes undertaken later in life, which is often challenging and has been associated with mortality and a high morbidity rate...
March 2, 2018: Journal of Neurosurgery. Pediatrics
Emanuele Orrù, Sonia F Calloni, Aylin Tekes, Thierry A G M Huisman, Bruno P Soares
OBJECTIVE: The purpose of this article is to offer a systematic approach to the imaging of children with macrocephaly and to illustrate key neuroimaging features of common and rare but important disorders. CONCLUSION: Macrocephaly is a common clinical finding in children. Increased volume of one of the intracranial compartments can enlarge the head either prenatally or postnatally while the cranial sutures are open. Imaging plays a central role in establishing a diagnosis and guiding management...
February 22, 2018: AJR. American Journal of Roentgenology
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
Hsiu-Huei Peng, Sheng-Wen Shaw, Kuan-Gen Huang
OBJECTIVE: Glutaric aciduria type 1 is a rare disease, with the estimated prevalence about 1 in 100,000 newborns. GCDH gene mutation can lead to glutaric acid and 3- OH glutaric acid accumulation, with clinical manifestation of neuronal damage, brain atrophy, microencephalic macrocephaly, decreased coordination of swallowing, poor muscle coordination, spasticity, and severe dystonic movement disorder. CASE REPORT: A 22-year-old female, Gravida 4 Para 2, is pregnancy at 13 weeks of gestational age...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD. CASE REPORT: A 33-year-old woman was referred for genetic counseling at 25 weeks of gestation because of fetal ultrasound abnormalities. Prenatal ultrasound at 14 weeks of gestation revealed an increased nuchal translucency (NT) and hydrocephalus...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Ahmed Abdel Khalek Abdel Razek
The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Bony dysplasia changes as sphenoid ridge dysplasia, spinal scalloping, dural ectasia, and meningoceles. Vasculopathy and cortical cerebral and cerebellar malformations of the brain have been reported...
February 17, 2018: Neurological Sciences
Ryan Ghusayni, Monisha Sachdev, William Gallentine, Mohamad A Mikati, Marie T McDonald
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Angeline Thomas, Els F M Dobbels, Priscilla E Springer, Christelle Ackermann, Mark F Cotton, Barbara Laughton
The first case of Glutaric aciduria Type 1(GA1) in an African child was reported in 2001. GA1 has a prevalence of 1:5000 in black South Africans. Although early diagnosis is essential for a favourable outcome, newborn screening is not routine in South Africa where an estimated 320,000 children have HIV infection. Neurodevelopmental delay and encephalopathy are complications of both HIV and GA1. In such a setting it is important to recognise that HIV and GA1 can occur simultaneously. We present an HIV-infected South African male child of Xhosa descent with macrocephaly who commenced combination antiretroviral therapy (ART) at 8 weeks of age in a clinical trial which included a neurodevelopmental sub-study...
February 9, 2018: Metabolic Brain Disease
Robert Smigiel, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Rafal Ploski
Overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features are the main symptoms of Weaver syndrome, a rare condition caused by mutations in EZH2 gene. Recently, in four patients with Weaver-like symptoms without mutations in EZH2 gene, pathogenic variants in EED were described. We present another patient clinically diagnosed with Weaver syndrome in whom WES revealed an EED de novo mutation affecting two neighboring aminoacids, NM_003797.3:c...
February 6, 2018: Journal of Human Genetics
Shang-Fu Hsu, Chen-Chun Lin
RATIONALE: Van Buchem disease (VBD) is a very rare autosomal recessive disease. According to our review of the relevant literature, this article is the first case report of VBD in Taiwan. PATIENT CONCERNS: A 54-year-old woman developed a protruding chin, frontal bossing, and macrocephaly at the age of 40 years. She noted the onset of progressive bilateral visual and hearing impairment at the age of 40 and 45 years, respectively. Intermittent headaches, peripheral facial palsy, recurrent bilateral trigeminal neuralgia, and back pain were also observed since age 40...
December 2017: Medicine (Baltimore)
Yookyeong Carolyn Sim, Gu-Hwan Kim, Sung-Weon Choi, Kang-Min Ahn
The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Recurrence and/or de novo development of KOT were assessed. Gene analysis using peripheral blood was performed in all patients to identify the mutation of PTCH1 gene...
January 29, 2018: Journal of Craniofacial Surgery
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
December 20, 2017: Molecular Genetics and Metabolism
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A...
January 17, 2018: American Journal of Medical Genetics. Part A
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies...
January 10, 2018: European Journal of Human Genetics: EJHG
Jiangfei Chen, Linjie Tian, Lei Lei, Fei Hou, Courtney Roper, Xiaoqing Ge, Yuxin Zhao, Robert L Tanguay, Changjiang Huang
Autism spectrum disorder (ASD) has complex neurodevelopmental impairments and origins that are linked to both genetic and environmental factors. Hence, there is an urgency to establish animal models with ASD-like characteristics to understand the underlying mechanisms of ASD. Prenatal exposure to valproic acid (VPA) has been shown to cause ASD-like symptoms in humans, rats, and recently zebrafish. The present study investigated the use of VPA exposure to create an ASD model in zebrafish that was verified through observation of ASD-like phenotypes in brain development and behavioral changes in embryonic and larval zebrafish...
January 5, 2018: Neurotoxicology and Teratology
Bryan Renne, Stefan Rueckriegel, Sudheesh Ramachandran, Julia Radic, Paul Steinbok, Ash Singhal
Bobble-head doll syndrome (BHDS) is a rare pediatric movement disorder presenting with involuntary 2- to 3-Hz head movements. Common signs and symptoms also found on presentation include macrocephaly, ataxia, developmental delay, optic disc pallor or atrophy, hyperreflexia, tremor, obesity, endocrinopathy, visual disturbance or impairment, headache, and vomiting, among others. The syndrome is associated with suprasellar cysts, third ventricular cysts, or aqueductal obstruction, along with a few other less common conditions...
January 5, 2018: Journal of Neurosurgery. Pediatrics
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