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 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.

scholarly journals A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

2015 ◽  
Vol 1 (1) ◽  
Author(s):  
Luisa Ronzoni ◽  
Lidia Pezzani ◽  
Donatella Milani ◽  
Pietro Chiurazzi ◽  
Maria Grazia Pomponi ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Cerebellar Hypoplasia ◽  
Intragenic Deletion

Central Nervous System Abnormalities in Dyskeratosis Congenita and Fanconi Anemia: Correlation with Clinical Phenotype and Aplastic Anemia.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 1682-1682
Author(s):  
Neelam Giri ◽  
John A. Butman ◽  
Meg F. Keil ◽  
Constantine A. Stratakis ◽  
Blanche P. Alter
Keyword(s):  
Bone Marrow ◽  
Developmental Delay ◽  
Clinical Phenotype ◽  
Bone Marrow Failure ◽  
Dyskeratosis Congenita ◽  
Hormone Deficiency ◽  
Cerebellar Hypoplasia ◽  
Patients Âgés ◽  
Truncal Ataxia ◽  
The Mean

Abstract Fanconi anemia (FA) and dyskeratosis congenita (DC) are characterized by bone marrow failure (BMF) and an increased risk of acute myeloid leukemia, myelodysplastic syndrome and epithelial cancers. While cerebellar hypoplasia has been reported in some patients with DC, and small pituitary size and midline brain anomalies in FA, systematic central nervous system (CNS) magnetic resonance imaging (MRI) and correlation with clinical phenotype and aplastic anemia (AA) are lacking. To investigate these associations we evaluated patients with DC and FA enrolled in the National Cancer Institute’s Inherited Bone Marrow Failure Syndrome study. DC: 16 patients, ages 1–23 yrs (median 9 yrs), had CNS MRI as a part of their evaluation. All had peripheral cytopenias; 11 with severe AA were on treatment with androgens or transfusions. 13/16 had at least 2 of the 3 features of the diagnostic triad (dystrophic nails, oral leukoplakia and reticulated skin pigmentation). Among 10 patients with microcephaly, 8 had developmental delay, 7 truncal ataxia and 6 had a severe phenotype with the Hoyeraal-Hreidarsson variant. 7/16 patients had moderate to severe cerebellar hypoplasia. Patients with cerebellar hypoplasia were significantly younger than those without (median age 6 yrs vs. 14 yrs respectively; p=0.01). All patients with cerebellar hypoplasia had truncal ataxia, developmental delay and microcephaly, whereas amongst those without hypoplasia 3 had microcephaly (p=0.01), none had ataxia and one had developmental delay (p=0.001). There was no correlation between the severity of AA and cerebellar hypoplasia (p=0.5). FA: 11 patients, ages 6–42 yrs (median 22 yrs) who were not on current treatment and 13 age and sex-matched controls underwent CNS MRI. 9 patients had cytopenias; 5 with severe AA had received prior treatment (3 bone marrow transplant, 2 transfusions). Pituitary height, width and area in patients with FA were compared with the NIH controls and pituitary heights were compared with published normal values. The mean pituitary height in the FA patients tended to be lower then the NIH or published controls (p=0.06 and p=0.09 respectively). However, the mean pituitary width and the mean pituitary area were significantly lower in patients with FA compared with the NIH controls (p=0.003). In all, 7/11 patients had small pituitary glands; one of these had pituitary stalk interruption and another had an absent septum pellucidum. 7 patients had one or more endocrine abnormalities: 4 growth hormone deficiency, 6 hypothyroidism, 7 hypogenitalia/hypogonadism and 6 short stature. An equal proportion of patients with a small pituitary had short stature, hypothyroidism and growth hormone deficiency when compared with those who had a normal pituitary gland (p=1.0). There was no correlation between small pituitary size and age (p=0.2), any endocrine abnormality (p=0.5) or severe AA (p=0.6). CNS abnormalities were detected by MRI in ∼ 50% of patients with DC or FA. In an age-dependent analysis, the cumulative incidence of AA was the same in those with or without cerebellar hypoplasia in DC and in those with or without a small pituitary in FA. We currently recommend that all patients with DC and FA undergo MRI of the brain and pituitary to more completely characterize the spectrum of CNS anomalies, and to determine whether there is an association with hematologic severity in a larger data set.

scholarly journals De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

2019 ◽  
Vol 105 (2) ◽  
pp. 413-424 ◽  
Author(s):  
Oguz Kanca ◽  
Jonathan C. Andrews ◽  
Pei-Tseng Lee ◽  
Chirag Patel ◽  
Stephen R. Braddock ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
De Novo ◽  
Cerebellar Hypoplasia

WED 201 A novel KIF1A mutation causing a neurodevelopmental disorder

2018 ◽  
Vol 89 (10) ◽  
pp. A29.3-A29
Author(s):  
Day Jacob ◽  
Turnpenny Peter ◽  
Gutowski Nick
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Novel Mutation ◽  
Hormone Replacement ◽  
Neurodevelopmental Disorder ◽  
Axonal Neuropathy ◽  
Periodic Limb Movements ◽  
Pituitary Hormone ◽  
Cerebellar Hypoplasia ◽  
Spastic Paraplegia

The KIF1A gene encodes a protein in the kinesin-3 family which drives movement along microtubules and is important for transport of synaptic vesicles. Biallelic mutations have been identified in autosomal recessive hereditary spastic paraplegia (HSP30) and hereditary sensory and autonomic neuropathy type 1A. More recently dominant heterozygous mutations have been found in people with a more severe phenotype that includes developmental delay, spastic paraplegia, neuropathy, optic nerve hypoplasia and progressive cerebellar hypoplasia.We report a female, now 22 years old, who has severe developmental delay, septo-optic dysplasia (requiring growth hormone and hydrocortisone replacement), sensorimotor axonal neuropathy, optic atrophy (now registered blind), non-progressive cerebellar hypoplasia, periodic limb movements and upper limb spasticity. She is extremely sensitive to gabapentin. A de novoKIF1A variant, c.814A>G, was identified. This is a novel missense variant (p.N272D) in the kinesin-motor domain.This case shows a phenotype consistent with previously described heterozygous KIF1A mutations and we believe represents a unifying diagnosis for her neurological disabilities. No previous cases describe non-progressive cerebellar hypoplasia nor septo-optic dysplasia requiring pituitary hormone replacement. This novel mutation therefore expands the phenotype associated with KIF1A mutations. We hypothesize that her sensitivity to gabapentin may be due to the KIF1A mutation.

scholarly journals De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

2019 ◽  
Vol 105 (3) ◽  
pp. 672-674 ◽  
Author(s):  
Oguz Kanca ◽  
Jonathan C. Andrews ◽  
Pei-Tseng Lee ◽  
Chirag Patel ◽  
Stephen R. Braddock ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
De Novo ◽  
Cerebellar Hypoplasia

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.

Sign in / Sign up

Export Citation Format

Share Document