Onset First Weeks of Life: Causes & Reasons

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Possible Causes for Onset First Weeks of Life

Congenital Bile Acid Synthesis Defect Type 2

Due to impaired bile acid synthesis, within the first weeks of life, affected infants start to present with malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal [preventiongenetics.com]

Clinical Features Congenital bile acid synthesis defect type 2 (CBAS2) is a progressive liver disease of neonatal onset characterized by cholestasis (Lemonde et al. 2003; [preventiongenetics.com]

Citrullinemia Type 1

Classic neonatal-onset citrullinemia type I is suspected in infants who have been on a full protein diet and who present in the first week of life with hyperammonemia, lethargy [egl-eurofins.com]

3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

The first cholestatic episode can occur at any age but onset within the first two decades of life is most common. [findzebra.com]

The disease can sometimes present in the fetus (hepatomegaly, ascitis, calcified adrenal glands), but onset more typically occurs in the first weeks of life with abdominal [findzebra.com]

Patients present with bouts of intense pruritus and jaundice that may last for several weeks or months before resolving spontaneously. [findzebra.com]

18-Hydroxylase Deficiency

A 15-year-old phenotypic female with XY genotype presented with male pseudohermaphroditism, gynecomastia, hypokalemic alkalosis, and hypertension. Being raised as a girl, the patient failed to menstruate and developed no sexual hair. At laparatomy no Müllerian structures were found but testes were removed which[…] [ncbi.nlm.nih.gov]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Home Documents 57. Benign infantile cytochrome c oxidase deficiency myopathy: Reversible or not? Published on 19-Oct-2016 View 213 Download 0 Transcript mal and lysosomal inhibitors to determine the degradation pathwayof the mutant protein. Real-time PCR was performed to detectexpression of endoplasmic reticulum[…] [docslide.com.br]

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency

Nephrotic Syndrome Type 8

Talk to our genetiec expert 55 644 5590 All the samples are tested by 2 different teams to get accurate test results. The samples are processed at Genetic DNA Lab facility. Test Cost : 3000.00 AED Reporting Time: 5 Week Sample Type: EDTA blood or DNA Nephrotic syndrome type 8 (ARHGDIA) Test Description :[…] [dnalabsuae.com]

Mitochondrial Complex 3 Deficiency Nuclear Type 5

Congenital Bile Acid Synthesis Defect Type 4

1. Chardot C (2006) Biliary atresia. Orphanet J Rare Dis 1:28 Article PubMed Google Scholar 2. Chardot C, Carton M, Spire-Bendelac N, et al (1999) Epidemiology of biliary atresia in France: a national study 1986–1996. J Hepatol 31(6):1006–1013 CAS Article PubMed Google Scholar 3. Debray D, Bernard O, Gauthier F (2009)[…] [link.springer.com]

Enteric Anendocrinosis

Citation metadata Abstract : OBJECTIVE--NEUROG3 plays a central role in the development of both pancreatic islets and enteroendocrine cells. Homozygons hypomorphic missense mutations in NEUROG3 have been recently associated with a rare form of congenital malabsorptive diarrhea secondary to enteroendocrine cell[…] [go.gale.com]

Fatal Infantile Hypertonic Myofibrillar Myopathy

MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. [uniprot.org]

Get Update Overview Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal [diseaseinfosearch.org]

[…] in first 8 weeks of life - Death usually in the first 2 years of life Molecular Basis - Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0005 ) Muscle Soft [mnglabs.com]

Group B Streptococcal Infection

(first week of life) – respiratory distress, apnea, bacteremia, pneumonia, septic shock, meningitis (less frequent than in late onset) Late onset (1 week-3 months) – bacteremia [arupconsult.com]

Infection in newborns may be divided into 2 types: Early onset disease ( EOD ) This occurs in the first week of life. [gov.uk]

[…] starts during a newborn's first week of life. [webmd.com]

Neonatal Sepsis

When there is late-onset sepsis (after the first week of life) there is usually central nervous system involvement. [allnurses.com]

Early-onset sepsis is seen in the first week of life. Late-onset sepsis occurs between days 8 and 89. [coordinatedhealth.com]

Early-onset sepsis is seen in the first week of life. Occurs after 1 week and before 3 months of age. [omicsonline.org]

Alpha-B Crystallinopathy

MFMFIH-CRYAB has onset in the first weeks of life after a normal neonatal period. [genecards.org]

[from GeneReviews ] From OMIM Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after [ncbi.nlm.nih.gov]

Right-Sided Diaphragmatic Hernia

Delay in pre-admission diagnosis was a median of 23.5 weeks from onset of symptoms and median age of diagnosis was 9 months, despite the onset of symptoms in the first week [ncbi.nlm.nih.gov]

[…] of life. [ncbi.nlm.nih.gov]

Possible diagnostic indicators are: multiple anomalies, including chromosomal disease; an early recurrence of apparently 'cured' respiratory infection; and early onset of [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 7

KCNQ2 Encephalopathy : Seizure onset in the first week of life without identifiable cause. [kcnq2.org]

Rett and Teubel, 1964 • Description of four generation family with 9 individuals with BFNC • Seizure onset in the first week of life and occurred multiple times daily • Seizures [slideshare.net]

The syndrome is characterized by neonatal seizures with onset in the first week of life in an otherwise healthy child. [epilepsygenetics.net]

TBC1D24-Related Disorders

Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks [genecards.org]

Disease onset varies in age from 1 week to 7 months of life (average – 3 months) [1, 4]. [intechopen.com]

[…] or months of life. [genecards.org]

Neonatal Infection

Classification early onset occurs in the first week of life and as an intrauterine pneumonia often caused by group B streptococcus or gram negative bacteria late onset occurs [radiopaedia.org]

Early-onset sepsis is seen in the first week of life. Late onset sepsis occurs after 1 week through 3 months of age. [nlm.nih.gov]

PEHO Syndrome

Clinical description Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. [rarediseases.info.nih.gov]

[…] infantile spasms and hypsarrhythmia after the first two weeks of life; onset of optic atrophy before two years of age, and failure to obtain any of the milestones for motor [rarediseases.info.nih.gov]

Diagnostic methods Diagnosis is mainly clinical and depends on the presence of the following diagnostic criteria: early-onset severe hypotonia; the occurrence of seizures, [rarediseases.info.nih.gov]

Heiner Syndrome

Although this patient's onset of respiratory infections had dated back to her first few weeks of life, she had not come to treatment until the age of six: months. [pubs.rsna.org]

Transient Neonatal Pustular Melanosis

[…] soles - histology: needle shaped clefts w/necrotic adipocytes with little surrounding inflammation Subcutaneous fat necrosis of the newborn - onset within first weeks of [studyblue.com]

These can be present at birth or have onset any time during the first year of life. Recurrences can occur every 2-4 weeks and can last 5-10 days. [pedclerk.bsd.uchicago.edu]

Occasionally onset is delayed until 10 days after birth or it recurs in the first 2–6 weeks after birth. [racgp.org.au]

Sclerema Neonatorum

Sclerema neonatorum can present at birth, but onset within the first week of life is more common. [emedicine.medscape.com]

Jankovic Rivera Syndrome

Classic FD is characterized by onset in the first weeks of life of painful, progressive deformity of the major joints; palpable subcutaneous nodules of joints and mechanical [ncbi.nlm.nih.gov]

Developmental and Epileptic Encephalopathy Type 17

Ohtahara Syndrome is a severe early onset epilepsy that usually starts in the first few weeks of life and usually evolves into therapy-refractory epilepsy and severe cognitive [epilepsygenetics.net]

The onset of seizures in most of them was within the first week of life. [ncbi.nlm.nih.gov]

[…] of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. [genecards.org]

Wolman Disease

Clinical description The disease can sometimes present in the fetus (hepatomegaly, ascitis, calcified adrenal glands), but onset more typically occurs in the first weeks of [orpha.net]

life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascitis. [orpha.net]

Enterocolitis

The 101 preterm infants were divided into 3 groups regarding the age of onset of NEC: Group1 included all the preterm infants who presented signs of NEC in the first two weeks [refubium.fu-berlin.de]

[…] of life (n=36), group 2 consisted of those pretems that developed NEC from day 15 to day 28 ( n=38), and in group 3 were all preterms who developed NEC after 4 weeks of life [refubium.fu-berlin.de]

Neonatal Scleroderma

Sclerema neonatorum can present at birth, but onset within the first week of life is more common. [emedicine.medscape.com]

Tetanus Neonatorum

Prognosis is worst, if onset of symptoms within first week of life, 50% cases were presented in first week of life. [jemds.com]

Overall prognosis is worst in following situation. 2,3,5 Onset of symptoms within first week of life. [jemds.com]

[…] two days of life and is rare after the age of 2 weeks. [jemds.com]

Streptococcus Agalactiae

Infections occurring within the first week of life are considered early-onset; those occurring in infants greater than 1 week of age are considered late-onset. [mayocliniclabs.com]

or after the first week of life (late-onset). [1] Infection in women can occur if the bacteria enters the endometrium during childbirth, and then puerperal fever can occur [austincc.edu]

Infection in newborns may be divided into 2 types: Early onset disease (EOD) This occurs in the first week of life. [gov.uk]

Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome

First weeks of life Urine metabolites: Ceramide Clinical features: Lipogranulomatosis, periarticular subcutaneous nodules, irritability, hoarse cry, psychomotor and growth [merckmanuals.com]

[…] palsy, laryngeal spasm, ichthyosis, developmental delay, hypersplenism, death by age 2 yr Treatment: Supportive care Type III (juvenile form, Norrbottnian type; 231000) Onset [merckmanuals.com]

Similar to type II except milder, possible survival into adulthood Treatment: Supportive care Farber disease (lipogranulomatosis; 228000) Ceramidase ASAH (8p22-p21.3)* Onset [merckmanuals.com]