At present, patient 1 presents a severe phenotype and receives anti-epileptic medication, weekly physiotherapy, and assisted therapy, as well. [ncbi.nlm.nih.gov]

Some researchers break down the infantile multisystem stage into two distinct clinical presentations. [rarediseases.org]

O-linked CDGs, in contrast, typically present as muscular dystrophies with additional phenotypes such as hypotonia, brain malformations, intellectual disability, cardiac involvement, or ocular dysfunction (Martin. 2005. PubMed ID: 16584074). [preventiongenetics.com]

The symptoms are not present at birth, but usually occur after the age of 15 years. [medicaljournals.se]

"Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia". J. Clin. Endocrinol. Metab. 90 (7): 4371–5. DOI:10.1210/jc.2005-0250. [dictionnaire.sensagent.leparisien.fr]

• Fever

  In approximately 50 percent of children with PMM2-CDG, infections and fevers may trigger stroke-like episodes characterized by sluggishness (lethargy) and unresponsiveness to the environment (stupor), sudden unconsciousness, seizures, temporary blindness [rarediseases.org]

• Failure to Thrive

  Failure to thrive Weight faltering, Postnatal failure to thrive, Undergrowth, Poor weight gain [more] Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [rarediseases.oscar.ncsu.edu]

  Failure to thrive MedGen UID: 746019 •Concept ID: C2315100 • Disease or Syndrome Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  The majority of N-linked CDGs present in infancy, and symptoms may include failure to thrive, developmental delay, liver dysfunction, seizures, hypotonia, hypoglycemia, protein-losing enteropathy, eye dysfunction (such as strabismus or retinitis pigmentosa [preventiongenetics.com]

  Throughout their first year of life, affected infants may demonstrate little interest in nursing or bottle-feeding, have repeated episodes of diarrhea, vomit frequently, and/or fail to gain weight or grow at the expected rate (failure to thrive). [rarediseases.org]

  Common manifestations include ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features (e.g., inverted nipples and subcutaneous fat pads; and strabismus. [wikidoc.org]

• Diarrhea

  Patient 2 was born with a severe phenotype consisting of liver involvement (hepatomegaly, hypoalbuminemia, protein-losing enteropathy, recurrent vomiting, and diarrhea), seizures, progressive developmental delay, and coagulation abnormalities with recurrent [ncbi.nlm.nih.gov]

  Throughout their first year of life, affected infants may demonstrate little interest in nursing or bottle-feeding, have repeated episodes of diarrhea, vomit frequently, and/or fail to gain weight or grow at the expected rate (failure to thrive). [rarediseases.org]

• Liver Fibrosis

  Common manifestations include ataxia; seizures; retinopathy; liver fibrosis; coagulopathies; failure to thrive; dysmorphic features (e.g., inverted nipples and subcutaneous fat pads; and strabismus. [wikidoc.org]

• Hydrops Fetalis

  Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Renal cyst Cystic kidney disease, Renal cysts A fluid filled sac in the kidney. [rarediseases.oscar.ncsu.edu]

  Some newborns experience abnormal accumulation of fluid in various tissues of the body (hydrops fetalis). [rarediseases.org]

  A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: early fetal loss with hydrops fetalis, and infant death with hypoproteinemia. [ncbi.nlm.nih.gov]

• Abnormal Eye Movement

  Symptoms indicating such underdevelopment usually become apparent during infancy and may include poor sucking response, abnormal eye movements, lack of coordination, and/or low muscle tone. [rarediseases.org]

• Psychomotor Retardation

  She showed psychomotor retardation, feeding problems, hepatomegaly and ophthalmological abnormalities (strabismus and cataract). [ncbi.nlm.nih.gov]

  retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development [rarediseases.oscar.ncsu.edu]

  History The first CDG patients (twin sisters) were described in an abstract in the medical journal Pediatric Research in 1980 by Jaeken et al.[1] Their main features were psychomotor retardation, cerebral and cerebellar atrophy and fluctuating hormone [wikidoc.org]

  retardation, ataxia, strabismus, anomalies (fat pads and inverted nipples) and coagulopathy. [dictionnaire.sensagent.leparisien.fr]

  One presentation is a non-fatal neurological form characterized by psychomotor retardation, underdevelopment (hypoplasia) of the cerebellum, and crossed eyes. [rarediseases.org]

• Stroke

  The stroke-like episodes and cerebral infarctions sometimes occurring in children with PMM2-CDG may be due in part to coagulation factor and coagulation inhibitor deficiencies. [rarediseases.org]

  […] at 4 months Table 1 Overview of the clinical symptoms observed in two siblings CDG-Ix Clinical symptoms Patient 1 (11 years old) Patient 2 early death (at 4 months) Psychomotor retardation +++ +++ Cerebellar atrophy – nd Seizures +++ (refractory) + Stroke [ncbi.nlm.nih.gov]

• Stupor

  In approximately 50 percent of children with PMM2-CDG, infections and fevers may trigger stroke-like episodes characterized by sluggishness (lethargy) and unresponsiveness to the environment (stupor), sudden unconsciousness, seizures, temporary blindness [rarediseases.org]

  Compared with other CDG types, the phenotype in ALG1-CDG is very severe, with rapid development of microcephaly, seizures refractory to treatment, progressive stupor, and death in early infancy (Kranz et al. 2004). [ncbi.nlm.nih.gov]

• Peripheral Neuropathy

  But for many affected adolescents, abnormalities involving the peripheral nervous system (peripheral neuropathy) may worsen. [rarediseases.org]

At this time, treatment is available for MPI-CDG (oral mannose or liver transplantation) (Jaeken. 2017. PubMed ID: 28484880). [preventiongenetics.com]

Treatment No treatment is available for most of these disorders. [wikidoc.org]

IEF of serum Tf after neuraminidase treatment showed only one band excluding a Tf protein variant. The abnormal Tf-IEF pattern was confirmed by HPLC and MALDI-TOF MS in patient 1. [ncbi.nlm.nih.gov]

The life-threatening HI phenotype is characterized by massively thickened skin with impaired skin barrier function, infection and water loss, requiring intensive care treatment (19, 21). [medicaljournals.se]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

PMID: 15148656Free PMC Article Prognosis Abu Bakar N, Ashikov A, Brum JM, Smeets R, Kersten M, Huijben K, Keng WT, Speck-Martins CE, de Carvalho DR, de Rizzo IMPO, de Mello WD, Heiner-Fokkema R, Gorman K, Grunewald S, Michelakakis H, Moraitou M, Martinelli [ncbi.nlm.nih.gov]

[…] nervous system Cerebellar atrophy Delayed CNS myelination Epileptic encephalopathy Global brain atrophy Global developmental delay Hyperreflexia Intellectual disability Poor speech Seizure Ear malformation Low-set ears Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol 2009; 161: 884–889. [medicaljournals.se]

In addition, many infants and children with PMM2-CDG periodically exhibit low levels of certain substances in the blood that help the blood clot (coagulation factors, such as factor XI) or prevent abnormal blood clotting (coagulation inhibitors, such [rarediseases.org]