Infantile Onset: Causes & Reasons

Possible Causes for Infantile Onset

The authors present the first case of infantile-onset spinocerebellar ataxia associated with a novel SPTBN2 mutation (transition C>T at nucleotide position 1438), the proband [ncbi.nlm.nih.gov]

Case of infantile onset spinocerebellar ataxia type 5. Jacob F.D., Ho E.S., Martinez-Ojeda M., Darras B.T., Khwaja O.S. [uniprot.org]

Panel Description This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Infantile-onset [fulgentgenetics.com]

Autosomal Recessive Spinocerebellar Ataxia 18

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial [karger.com]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

[…] included in that classification, use the term "spinocerebellar", and have an autosomal recessive inheritance: [5] Autosomal recessive spinocerebellar ataxia 10 (SCAR10) Infantile-onset [rarediseases.info.nih.gov]

Developmental and Epileptic Encephalopathy Type 2

The boy developed infantile-onset tonic-clonic and tonic seizures, then spasms in clusters. [ncbi.nlm.nih.gov]

A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination [medical-dictionary.thefreedictionary.com]

9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity [genecards.org]

Developmental and Epileptic Encephalopathy Type 6

Abstract Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. [ncbi.nlm.nih.gov]

BACKGROUND: Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding [ncbi.nlm.nih.gov]

Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 57

[…] with infantile onset progressive pyramidal syndrome with pseudobulbar palsy. [nature.com]

[…] olivopontocerebellar atrophy III, OPCA3, SCA7 ATXN7 autosomal dominant Spinocerebellar Ataxia, Autosomal Recessive 7 SCAR7 TPP1 autosomal recessive Spinocerebellar Ataxia, Infantile-Onset [disorders.eyes.arizona.edu]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

Autosomal Recessive Spinocerebellar Ataxia Type 17

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

onset Spinocerebellar ataxia at NIH 's Office of Rare Diseases OMIM: 271245 Spinocerebellar ataxia amyotrophy deafness at NIH 's Office of Rare Diseases Spinocerebellar ataxia [wikidoc.org]

onset spinocerebellar ataxia among others. [bcm.edu]

Tay-Sachs Disease

In the infantile Tay-Sachs group, the number of atoms influenced by a mutation was generally larger than that in the late-onset Tay-Sachs group in both the main chain and [ncbi.nlm.nih.gov]

There are three forms: Infantile-onset—usually fatal before 5 years of age Juvenile-onset—usually fatal in late childhood or adolescence Adult-onset—may survive up to 60 years [health.cvs.com]

onset of the disease. [news-medical.net]

GLUT1 Deficiency Syndrome

Clinical features usually comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly [ncbi.nlm.nih.gov]

GLUT1DS classically presents with infantile-onset epilepsy, progressive microcephaly, developmental delay, ataxia, dystonia, and spasticity, but a minority of patients may [ncbi.nlm.nih.gov]

The “classic” phenotype is severe and comprises infantile-onset epileptic encephalopathy, delayed development, acquired microcephaly, motor incoordination and spasticity. [medical-dictionary.thefreedictionary.com]

Aromatic L-Amino Acid Decarboxylase Deficiency

In view of his infantile-onset hypotonia, oculogyric crises, and protracted diarrhoea, an autonomic disturbance related to neurotransmitters was suspected. [ncbi.nlm.nih.gov]

Shamshuipo, Hong Kong 2 Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong Abstract A 15-year-old Chinese male with infantile-onset [hkmj.org]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intermittent hypothermia Intermittent abnormally low body temperature 0005964 Irritability Irritable 0000737 [rarediseases.info.nih.gov]

Richards-Rundle Syndrome

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [rarediseases.info.nih.gov]

[…] cord Degeneration of the spinal cord 0006827 Autosomal recessive inheritance 0000007 Global developmental delay 0001263 Hypogonadism Decreased activity of gonads 0000135 Infantile [rarediseases.info.nih.gov]

Hypomyelinating Leukodystrophy Type 9

Infantile onset alexander disease with normal head circumference: a genetically proven case report. [scielo.org.mx]

Developmental and Epileptic Encephalopathy Type 11

Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia, Congenital [igenomix.es]

Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile [igenomix.es]

X-Linked Charcot-Marie-Tooth Disease Type 2

Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia, Congenital [igenomix.es]

Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile [igenomix.es]

Developmental and Epileptic Encephalopathy Type 5

Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia, Congenital [igenomix.es]

The three patients with ARX mutations (mean age: 7 years, ranging from 2 to 16 years) displayed at onset early infantile epileptic encephalopathy with suppression burst (EIEE [research.unipd.it]

Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile [igenomix.es]

Encephalomyopathic Mitochondrial DNA Depletion Syndrome

Little Charlie Gard has a rare condition called infantile onset encephalomyopathic mitochondrial DNA depletion syndrome or MDDS. [thepapertrailnews.com]

It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal [uniprot.org]

Pontocerebellar Hypoplasia Type 2D

onset anterior horn cell degeneration resulting in progressive muscle atrophy; resembles infantile spinal muscular atrophy[5] Spinal muscular atrophy with pontocerebellar [en.wikipedia.org]

Diagnosis[edit] Classification[edit] Pontocerebellar hypoplasia is classified as follows:[4] Type OMIM Gene Locus Distinctive features Alternate names PCH1A 607596 VRK1 14q32 Infantile [en.wikipedia.org]

Developmental and Epileptic Encephalopathy Type 23

Encephalopathy With Olivopontocerebellar Hypoplasia AR 96.94 20 of 22 UBA1 Infantile-Onset X- linked Spinal Muscular Atrophy X,XR,G 99.58 NA of NA VAMP1 Spastic Ataxia, Congenital [igenomix.es]

Parastremmatic Dwarfism, Scapuloperoneal Spinal Muscular Atrophy, Spondylometaphyseal Dysplasia AD 100 88 of 88 TSEN2 Pontocerebellar Hypoplasia AR 95.47 4 of 5 TSEN54 Fatal Infantile [igenomix.es]

Autosomal-Recessive Pyridoxine-Refractory Sideroblastic Anemia

onset Onset in first year of life Onset in infancy [ more ] 0003593 Showing of 29 | Last updated: 3/1/2020 Sideroblastic anemia pyridoxine-refractory autosomal recessive [rarediseases.info.nih.gov]

[…] volume 0025066 Hypochromia 0032231 Increased serum ferritin Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level [ more ] 0003281 Infantile [rarediseases.info.nih.gov]

3-Methylglutaconic Aciduria Type 1

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 ;377(18):1723-32. DOI: 10.1056/NEJMoa1702752 [ Links ] 38. [scielo.org.pe]

Optic atrophy manifests as decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. [ncbi.nlm.nih.gov]

Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019;14. [scielo.org.pe]

Developmental and Epileptic Encephalopathy Type 26

onset NCL Neuronal ceroid-lipofuscinosis type 2 (CLN2) Information sheet late-infantile onset NCL Neuronal ceroid-lipofuscinosis type 3 (CLN3) Information sheet Juvenile [labs.gosh.nhs.uk]

9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity [genecards.org]

De novo heterozygous mutations in the gene were first described in patients with a severe, infantile-onset epileptic encephalopathy known as Ohtahara syndrome. 1 However, [neurology.org]

Aicardi-Goutières Syndrome Type 4

Two cases were prenatal onset AGS, 12 were infantile onset AGS and 9 were later onset AGS. [link.springer.com]

Introduction Aicardi–Goutières syndrome (AGS) is a severe genetic infantile encephalopathy. [nature.com]

According to the literatures, neurologic phenotypes of AGS can be classified as prenatal onset AGS (onset of disease in utero), infantile onset AGS (0–12 months), later onset [link.springer.com]

Atypical Krabbe Disease due to Saposin A Deficiency

[…] form Metachromatic leukodystrophy, late infantile form Young adult-onset Parkinsonism CLN10 disease Familial pancreatic carcinoma Familial prostate cancer Hereditary breast [csbg.cnb.csic.es]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Showing of 11 | Last [rarediseases.info.nih.gov]

Clinical description The infantile form has an onset at 2-6 months of age and is divided into 3 stages. [orpha.net]

Galloway-Mowat Syndrome

The primary features are infantile onset of cerebellar atrophy, microcephaly and proteinuria. [preventiongenetics.com]

Features Galloway-Mowat syndrome (GAMOS) is an extremely rare autosomal recessive disorder characterized by neurological impairments, developmental abnormalities and early-onset [preventiongenetics.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 1

CNS Encephalopathy, Adult onset Leber's (LHON) Leigh Longevity MELAS MERRF Myopathy ± CNS PEO Spinal cord Benign infantile mitochondrial myopathy with reversible cytochrome [neuromuscular.wustl.edu]

Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic [se-atlas.de]

onset or even atypical presentations with normal neurologic development. [mendelian.co]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive [mendelian.co]

M - - - - 0 - - MCAHS-2;GPIBD-4 The affected males presented neurological involvement characterized by an infantile-onset epilepsy and encephalopathy, and cutaneous abnormalities [databases.lovd.nl]

Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010; 75(7):646-53. PMID: 20713952 Deprez, L, et al. [invitae.com]

Isolated Succinate-CoQ Reductase Deficiency

0.67 BP * 35069 Infantile neuroaxonal dystrophy 150 Cases 251304 Infantile onset panniculitis with uveitis and systemic granulomatosis 4 Cases 1186 Infantile onset spinocerebellar [azkurs.org]

[…] spastic paralysis 17 Families 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 2 Cases 391316 Infantile-onset mesial temporal [azkurs.org]

Autosomal Recessive Spinocerebellar Ataxia

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L: Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial [karger.com]

Infantile onset spinocerebellar ataxia: Infantile onset spinocerebellar ataxia is a rare disorder manifesting at a very early age and was first described in Finland. [wjgnet.com]

onset spinocerebellar ataxia MLD, metachromatic leucodystrophy MSU, maple syrup urine disease NCV, nerve conduction velocity PCARP, posterior column ataxia with retinitis [jmg.bmj.com]

Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

[…] muscular hypotonia ; Infantile onset ; Intellectual disability ; Motor delay ; Muscle weakness ; Myopathy ; Neonatal hypotonia ; Scoliosis ; Skeletal muscle atrophy Associated [mousephenotype.org]

The degree of muscular or central nervous system involvement is variable within a spectrum and ranges from severe infantile onset hypotonia with feeding and respiratory complications [invitae.com]

This patient presented with infantile-onset cataracts and fatty liver in addition to proximal muscle weakness. [journals.plos.org]

Childhood-Onset Idiopathic Basal Ganglia Calcification

onset ; Intellectual disability, progressive ; Intellectual disability, severe ; Limb joint contracture ; Microcephaly ; Seizures ; Short stature ; Spasticity ; Tetraplegia [mousephenotype.org]

onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability, progressive Mental retardation, progressive Progressive mental retardation [ [rarediseases.info.nih.gov]

[…] in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity [mendelian.co]

X-Linked Spinocerebellar Ataxia Type 5

Extreme High Length Alleles : Infantile Onset, Developmental failure, Multisystem involvement (>200) 82. [slideshare.net]

[…] occur in the later degenerative causes of CAC (because the fibers have already crossed and formed synapses with pontine nuclei). 16, 18 Some degenerative diseases, such as infantile-onset [ajnr.org]

301310 Disease ID 668 at NIH 's Office of Rare Diseases Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300 Disease ID 6468 at NIH 's Office of Rare Diseases Infantile [en.wikipedia.org]