Onset in Late Infancy: Causes & Reasons

Possible Causes for Onset in Late Infancy

The atypical forms range from milder disease, with onset from late infancy to adulthood, to rapidly progressing and severe disease with late onset. [genetaq.com]

infancy to adulthood, to rapidly progressing and severe disease with late onset. [xpertdox.com]

There have been affected individuals with "atypical" forms of the condition with variable signs and symptoms; these forms have ranged from milder disease with onset from late [xpertdox.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 8

Bibliografía 1. Pitocco, D., Tesauro, M., Alessandro, R., Ghirlanda, G. and Cardillo, C. (2013). Oxidative stress in diabetes: implications for vascular and other complications. Int J Mol Sci, 14, 21525-21550. [ Links ] 2. Thanan, R., Oikawa, S., Hiraku, Y., Ohnishi, S., Ma, N., Pinlaor, S., et al. (2015). Oxidative stress and its[…] [scielo.sa.cr]

Mitochondrial Complex 3 Deficiency Nuclear Type 3

Pelizaeus-Merzbacher-like Brain Sclerosis

Classic PMD has its onset during late infancy. [pediatricneurosciences.com]

Neuronal Ceroid Lipofuscinosis Type 7

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and [scielo.br]

DE SOUZA *, MARTA CLIVATI ** ABSTRACT - The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy [scielo.br]

Renal Rickets

The onset is usually in early infancy, but a later form with an onset between the third and fifth year is also known. [jamanetwork.com]

The presentation covers the historical recognitions, clinical descriptions of the early and late types, the underlying changes in body chemistry, the pathologic anatomy and [jamanetwork.com]

Infantile Neuronal Ceroid Lipofuscinosis

Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding [ncbi.nlm.nih.gov]

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

[…] most common variant with a subacute course after onset in infancy or early childhood characterized by refractive epilepsy, mental regression, ataxia, visual loss, and progressive [icd10data.com]

Neuronal Ceroid Lipofuscinosis Type 4B

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

[…] infantile amaurotic idiocy late infantile batten disease late infantile neuronal lipofuscinosis (lincl) subacute late infantile neuronal ceroid- lipofuscinosis the second [icd10data.com]

Multiple Carboxylase Deficiency

Sci. (1992) [Pubmed] Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. [wikigenes.org]

Patients with MCD can be divided into the neonatal form occurring in the first few weeks of life and a juvenile form in which the onset is late in infancy. [grantome.com]

Neuronal Ceroid Lipofuscinosis Type 3

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

[…] infantile amaurotic idiocy late infantile batten disease late infantile neuronal lipofuscinosis (lincl) subacute late infantile neuronal ceroid- lipofuscinosis the second [icd10data.com]

Indian Childhood Cirrhosis

An Arab female child presented with rapidly progressive liver disease, with apparent onset in late infancy and death at 15 months. [ncbi.nlm.nih.gov]

Patterson Pseudoleprechaunism Syndrome

late infancy - Kyphoscoliosis - Large hands - Long foot - Macrotia - Marked delay in bone age - Ovoid thoracolumbar vertebrae - Palmoplantar cutis laxa - Premature adrenarche [syndrome.medicclub.info]

late infancy; [Skull]; Thickened cranial vault; Thick maxilla; Thick ethmoid bones; Thick mandibular condyles; [Spine]; Kyphoscoliosis; Irregular, dense end plate; Small, [findzebra.com]

[…] circulating cortisol level - Intellectual disability, progressive - Intellectual disability, severe - Irregular acetabular roof - Irregular sclerotic endplates - Joint swelling onset [syndrome.medicclub.info]

Neonatal Adrenoleukodystrophy

Clinical description NALD has an onset at birth or early infancy, but manifestations may be subtle enough that it is not diagnosed until late infancy or early childhood (or [orpha.net]

Juvenile Neuronal Ceroid Lipofuscinosis

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

[…] infantile amaurotic idiocy late infantile batten disease late infantile neuronal lipofuscinosis (lincl) subacute late infantile neuronal ceroid- lipofuscinosis the second [icd10data.com]

Acquired Kinky Hair Syndrome

[…] in late infancy Hypotonia Absent deep tendon reflexes Optic atrophy Decorticate posture Juvenile MLD: Juvenile MLD Onset at 5-10 yr Deterioration in school performance Alteration [authorstream.com]

Usually late(childhood) Usually early(infancy) Head size May have megaenchepaly Usually microcepaly Seizures Late, rare Early, severe Cognitive functions Initially normal [authorstream.com]

Prenatal diagnosis: by assays in chorionic villi or amniotic fluid cell culture Metachromatic leukodystrophy: Metachromatic leukodystrophy AR Arylsulfatase A deficiency Onset [authorstream.com]

Argininosuccinic Aciduria

Although patients may present at any age, the onset is more typical in the neonatal period or late infancy. [dermatologyadvisor.com]

The late onset form manifests late in infancy or in childhood; it presents with mental retardation, vomiting, failure to thrive and behavioral problems [4]. [bmcmedgenet.biomedcentral.com]

There are two forms of argininosuccinic aciduria, a severe form occurring during infancy and a late onset form. [my46.org]

Cholesterol Ester Storage Disease

This disease can present early and lead to death in childhood or adolescence due to cirrhosis of the liver, or it may have a late onset with survival into adulthood. [sema4.com]

CESD, the late onset phenotype of LAL deficiency, is clinically variable with patients presenting at any age with progressive hepatomegaly and often splenomegaly, leading [mayomedicallaboratories.com]

Wolman disease begins in infancy and has a more severe phenotype than cholesterol ester storage disease. [sema4.com]

Neurodegeneration with Brain Iron Accumulation

Age of onset varies from infancy to late adulthood. [dnatesting.uchicago.edu]

The age of onset ranges from infancy to late adulthood; the rate of progression varies. Generalized cerebral atrophy and cerebellar atrophy are also frequently observed. [sumerdoc.blogspot.com]

Age of onset may vary from early infancy to late adulthood. [invitae.com]

Infantile Neuroaxonal Dystrophy

Neuroimaging may aid in differentiation of INAD from other neurodegenerative disorders with onset in late infancy, providing impetus for diagnostic biopsy and early genetic [ncbi.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 10

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]

Three main childhood forms can be established on the basis of age of onset, clinical course, and ultrastructural morphology: infantile (INCL), late infantile (LINCL), and [scielo.br]

DE SOUZA *, MARTA CLIVATI ** ABSTRACT - The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy [scielo.br]

X-Linked Agammaglobulinemia Type 2

Late-onset agammaglobulinemia is known as common variable immunodeficiency (CVID; see this term). [orpha.net]

[…] in infancy. [orpha.net]

The clinical signs of the two forms are very similar and include recurrent bacterial infections (otitis media, pneumonia, and sinusitis), diarrhea and skin infections with onset [orpha.net]

Niemann-Pick Disease Type C2

The age of onset can vary from infancy to late adulthood. Sequence similarities Belongs to the NPC2 family. Cellular localization Secreted. [abcam.com]

Seizures are presented as unspecific feature in 33% of NPC patients, Seizures and cataplexy have been more often recorded among late infancy and juvenile-onset cases (37–57% [content.iospress.com]

The age of onset can vary from infancy to late adulthood. [genecards.org]

Dilated Cardiomyopathy Type 2B

Onset is in late infancy or adolescence. Sudden death may occur due to heart defects. [igm.cnr.it]

Onset of the POLG-related disorders ranges from infancy to late adulthood. [ncbi.nlm.nih.gov]

[…] severe form has onset in late childhood or adulthood (RBMX1B) (summary by Liewluck et al., 2007 and Shalaby et al., 2009). [ncbi.nlm.nih.gov]

Molybdenum Cofactor Deficiency Type C

[…] early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). [ncbi.nlm.nih.gov]

Late-onset MoCD is typically characterized by milder symptoms, such as acute neurologic decompensation in the setting of infection. [ncbi.nlm.nih.gov]

(termed early-onset or severe MoCD) and others developing signs and symptoms in childhood or adulthood (termed late-onset or mild MoCD). [ncbi.nlm.nih.gov]

Labrune Syndrome

Clinical onset occurs from early infancy to late adulthood, with most cases being diagnosed in children to young adults. [radiopaedia.org]

Lethal Neonatal Spasticity - Epileptic Encephalopathy

Differentiating features White matter disorders Gray matter disorders Age of onset Usually late (childhood) Usually early (infancy) Head size May have megalenchepaly Usually [slideshare.net]

[…] between the ages of 2 and 15, although it may occur in infancy or as late as adulthood. [umdf.org]

[…] in late infancy • Hypotonia initially • Peripheral neuropathy • Dysarthria • Optic atrophy • Mental regression • Decorticate posture finally  Expected life span ~ 3.5 years [slideshare.net]

Krabbe Disease

Four types of the disease can be distinguished: Type 1 - Symptom onset in early infancy Type 2 - Symptom onset in late infancy Type 3 - Symptom onset in childhood Type 4 - [symptoma.com]

However, additional cases of late symptom onset have been reported by now. [symptoma.com]

Symptom onset in adolescence/ adulthood Types 2, 3 and 4 are often referred to as late-onset GLC. [symptoma.com]

Pallister-Killian Syndrome

In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. [ncbi.nlm.nih.gov]

Familial Dyskinesia and Facial Myokymia

Onset is typically from infancy to late adolescence. The severity is variable, sometimes resulting in difficulty walking and talking. [bredagenetics.com]

The onset of the disorder is between infancy and late adolescence. [adcy5.org]

Congenital Neuronal Ceroid Lipofuscinosis

Although onset is usually in late infancy, later onset has been described. [emedicine.medscape.com]