scholarly journals Intracranial and Ocular Abnormalities in a Child with Neurodevelopmental Delay

2019 ◽  
Author(s):  
Meghna Rajaprakash ◽  
Jessica Heymans ◽  
Erick Sell
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Cerebellar Hypoplasia ◽  
Case Presentation ◽  
Ocular Abnormalities ◽  
Congenital Infections ◽  
Neurodevelopmental Delay ◽  
Birth History ◽  
Torch Infection ◽  
Torch Infections

Abstract Background: COL4A1 mutations can mimic TORCH infections and should be considered in the differential of congenital infections, especially when additional neuroanatomical abnormalities exist. Case presentation: A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel COL4A1 mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature. Conclusions: This case highlights the unique neuroanatomical and extracranial features of COL4A1 mutation which helps differentiate the condition from other related diseases. This report suggests that COL4A1 should be considered in a child with intracranial and ocular abnormalities, particularly in the absence of a perinatal etiology. Keywords: COL4A1, Intracranial calcification, Porencephaly, Cataract, Developmental Delay, TORCH.

scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

2021 ◽  
Author(s):  
Linyan Meng ◽  
Pirjo Isohanni ◽  
Yunru Shao ◽  
Brett H. Graham ◽  
Scott E. Hickey ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Cerebellar Hypoplasia

scholarly journals Bilateral Hydronephrosis with Grade 3 To 4 Vesicoureteral Reflux

2021 ◽  
pp. 121-124
Author(s):  
Mayur B. Wanjari ◽  
Hina Rodge ◽  
Deeplata Mendhe ◽  
Pratibha Wankhede ◽  
Sampada Late
Keyword(s):  
Developmental Delay ◽  
Vesicoureteral Reflux ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Pelvis ◽  
Female Child ◽  
Case Presentation ◽  
Bilateral Hydronephrosis ◽  
Grade 3

Introduction: Bilateral hydronephrosis is the enlargement of the parts of the kidney that collect urine. Bilateral means both sides. Bilateral hydronephrosis occurs when urine is unable to drain from the kidney into the bladder. Hydronephrosis is not itself a disease. It occurs as a result of a problem that prevents urine from draining out of the kidneys, ureters, and bladder. VUR grade 3 is similar to grade 2 where urine travels up the ureter and enters the part of the kidney where urine is collected before it drains to the ureter (renal pelvis). However, in grade 3 the ureters and renal pelvis appear abnormal in size or shape. Case Presentation: A 3 Years old female child is a known case of bilateral vesicoureteric reflex with bilateral hydroureteronephrosis with the developmental delay with sickle cell anemia came to the hospital for further management. As narrated by mother-child was apparently alright till 6 months of age after the child developed excessive passing of urine and in increased more times. Conclusion: After taking treatment for the bilateral vesicoureteric reflex with bilateral hydroureteronephrosis patient was hemodynamically stable hence the patient is being discharged.

scholarly journals Study of perinatal factors in children with developmental delay

2016 ◽  
Vol 4 (1) ◽  
pp. 182 ◽  
Author(s):  
Goli Sri Charan ◽  
Jayant Vagha
Keyword(s):  
Birth Weight ◽  
Developmental Delay ◽  
Gestational Age ◽  
Birth Asphyxia ◽  
Global Developmental Delay ◽  
Developmental Quotient ◽  
Birth History ◽  
History Of ◽  
Observational Descriptive Study ◽  
Birth Body Weight

Background: Birth history gives important information in children with developmental delay. Developmental challenge in children is an emerging problem across the globe, which is largely associated with improved neonatal survival. The present study highlights the importance of birth history in children with developmental delay in our hospital. The objective of this study was to study the perinatal events in children with developmental delay.Methods: Observational descriptive study was conducted on children between 6 months to 5 years who were admitted in Pediatric wards with suspected history of developmental delay. DDST II scale was performed on these children and children who failed on Denver II scale were recruited into the study. Birth history was noted in detail, if available, documentation of birth events was asked for and noted. Developmental history with developmental quotient (DQ), were noted in detail.Results: 135 children had developmental delay, 113 (83.70%) were born by vaginal delivery and 22 (16.30%) were born by caesarian section, 46 (34.18%) had no cry at birth and remaining 89 (65.92%) had normal cry at birth. 104 (77.04%) were born by term gestation and 31 (22.96%) were born preterm. Birth weight was normal in 78 (57.7%) children, LBW was seen 47 (34.81%) and 5 children each with VLBW and ELBW and 35 (25.93%) were IUGR. On comparing the children born gestational age and birth body weight with all four domains, there was no significant difference.Conclusions: Global developmental delay was more common in children born at preterm, low birth weight, IUGR and children who had birth asphyxia. Birth weight and gestational age did not significantly affect any particular domain of development. 

scholarly journals Phenotypes in Children With SYNGAP1 Encephalopathy in China

2021 ◽  
Vol 15 ◽  
Author(s):  
Huiting Zhang ◽  
Liu Yang ◽  
Jing Duan ◽  
Qi Zeng ◽  
Li Chen ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Behavioral Problems ◽  
Disease Onset ◽  
Gene Mutations ◽  
Global Developmental Delay ◽  
Clinical Trial Registry ◽  
Neurodevelopmental Delay ◽  
Epileptic Spasms ◽  
Registration Number ◽  
Drug Resistant Epilepsy

Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children’s Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied.Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites (c.924G > A, c.1532-2_1532del, c.1747_1755dup, and c.1735_1738del) had not been reported before. All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types. Abnormal electroencephalograms were identified from five patients before the onset of their seizures. All patients suffered from drug-resistance seizures. However, comorbidities such as behavioral problems were less frequently observed.Conclusion: The most common age of disease onset in SYNGAP1 gene mutations is in infancy, while neurodevelopmental delay and epilepsy are the major phenotypes. They have a higher percentage of drug-resistant epilepsy and epileptic spasms than those in previous reports. We should give attention to the patients with abnormal EEGs without seizures and think about the suitable time of the anti-seizure medications for them. We have not found the genotype–phenotype correlation.Trial registration: Chinese Clinical Trial Registry, Registration number: ChiCTR2100049289 (https://www.chictr.org.cn/listbycreater.aspx).

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

scholarly journals Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
T. M. Morgan ◽  
J. M. Colazo ◽  
L. Duncan ◽  
R. Hamid ◽  
K. M. Joos
Keyword(s):  
Genetic Testing ◽  
Posterior Fossa ◽  
Case Reports ◽  
Infantile Hemangioma ◽  
Cardiac Defects ◽  
Case Presentation ◽  
Female Patients ◽  
Phace Syndrome ◽  
Diagnostic Criterion ◽  
Arterial Anomalies

Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

scholarly journals DEVELOPMENTAL DELAY IN CHILDHOOD CATARACT: A CAVEAT MARINESCO-SJÖGREN SYNDROME

2014 ◽  
Vol 04 (03) ◽  
pp. 121-123
Author(s):  
Rathika D. Shenoy ◽  
Deepthi R. V. ◽  
Nutan Kamath ◽  
Sumana J. Kamath
Keyword(s):  
Developmental Delay ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Sjögren Syndrome ◽  
Sjogren Syndrome ◽  
Cerebellar Hypoplasia ◽  
Psychomotor Delay ◽  
Neuro Imaging ◽  
Childhood Cataract

AbstractWe report on a child with Marinesco-Sjögren Syndrome, a rare autosomal recessive disorder characterised by early onset cataract, psychomotor delay, cerebellar hypoplasia and myopathy. The presentation, neuro-imaging and muscle biopsy features are discussed.

Introduction

2017 ◽  
Author(s):  
Helen V. Firth ◽  
Jane A. Hurst
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Congenital Malformation ◽  
Communication Skills ◽  
Genetic Diagnosis

This chapter introduces a number of important genetic concepts. It discusses patterns of inheritance, the approach to the consultation with a child with dysmorphism, congenital malformation, or developmental delay, communication skills, confidentiality, how to provide precise and accurate genetic diagnosis, and some of the important aspects of genetic testing. It concludes with a list of useful resources.

scholarly journals Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

2019 ◽  
Vol 19 (1) ◽  
pp. 161-163 ◽  
Author(s):  
Gillian Rea ◽  
Sandya Tirupathi ◽  
Jonathan Williams ◽  
Penny Clouston ◽  
Patrick J. Morrison
Keyword(s):  
Cerebral Palsy ◽  
Genetic Testing ◽  
Developmental Delay ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset

Abstract Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.

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