Onset First Weeks of Life: Causes & Reasons

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]

Enteric Anendocrinosis

[…] diarrhea present with intractable diarrhea in the first few weeks of life. [ojrd.biomedcentral.com]

[…] of Rare Diseases volume 16, Article number: 383 (2021) Cite this article 1476 Accesses 2 Citations 1 Altmetric Metrics details Abstract Background Infants with neonatal-onset [ojrd.biomedcentral.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]

Infantile-Onset Pompe Disease

2019 Aug 1;117(4):271-278. doi: 10.5546/aap.2019.eng.271. [Article in English, Spanish] Affiliations PMID: 31339275 DOI: 10.5546/aap.2019.eng.271 Free article Infantile-onset Pompe disease: Diagnosis and management [Article in English, Spanish] Luisa B Bay et al. Arch Argent Pediatr. 2019. Free article Abstract in English,[…] [pubmed.ncbi.nlm.nih.gov]

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

Arch Dis Child. 1992 Aug; 67(8): 1033–1035. This article has been cited by other articles in PMC. Abstract Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. Sucking and breathing difficulties appeared within a few weeks of birth. Clinical examination revealed[…] [ncbi.nlm.nih.gov]

Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency

Fonti utilizzate nella revisione corrente Haldeman-Englert, C. (Reviewed 2015 October 27). Congenital adrenal hyperplasia. MedlinePlus Medical Encyclopedia. Available online at https://medlineplus.gov/ency/article/000411.htm. Accessed July 2017. Speiser, P. W. (2016 April). Congenital adrenal hyperplasia (CAH). National Adrenal[…] [labtestsonline.it]

Nephrotic Syndrome Type 8

Jun Soma * Division of Nephrology, Iwate Prefectural Central Hospital Morioka 020-0066, Japan *Corresponding Author: Dr. Jun Soma Division of Nephrology Iwate Prefectural Central Hospital, 1-4-1 Ueda Morioka 020-0066, Japan Tel: +81-19-653-1151 Fax: +81-19-653-8919 E-mail: [email protected] Received Date: September[…] [omicsonline.org]

Mitochondrial Complex 3 Deficiency Nuclear Type 5

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]

Congenital Bile Acid Synthesis Defect Type 4

Nome malattia codice esenzione malattia di riferimento MACRODATTILIA PIK3CA CORRELATA RNG093 SINDROMI MALFORMATIVE CONGENITE GRAVI ED INVALIDANTI CARATTERIZZATE DA UN ACCRESCIMENTO PRECOCE ECCESSIVO MACROTROMBOCITOPENIA AUTOSOMICA DOMINANTE RDG040 TROMBOCITOPENIE EREDITARIE MACROTROMBOCITOPENIA AUTOSOMICA[…] [malattierare.regione.veneto.it]

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]

Parrot Pseudoparalysis

Onset most commonly in first 3 weeks of life, seldom after 3 months. Upper extremities affected more frequently than lower. [whonamedit.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]

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

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

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]

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]

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]

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]

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. [medlineplus.gov]

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]

Alpha-B Crystallinopathy

[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]

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

In contrast, early onset of adrenal insufficiency in the first weeks of life evokes plausible monogenic origin. [datospdf.com]

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 ascites. [orpha.net]

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

Sclerema Neonatorum

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

Neonatal Scleroderma

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]

Congenital Herpes Simplex Infection

Infants with disseminated disease and SEM disease have an earlier age of onset, typically presenting between the first and second weeks of life. [pubmed.ncbi.nlm.nih.gov]

[…] month of life. [pubmed.ncbi.nlm.nih.gov]

Initial signs of HSV infection can occur anytime between birth and approximately 6 weeks of age, although almost all infected infants develop clinical disease within the first [pubmed.ncbi.nlm.nih.gov]

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]

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

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]

Familial Infantile Myoclonic Epilepsy

Mayo Clinic Video Asset: Neonatal and Infantile Onset Epilepsy Seizures beginning during first weeks of life: Benign neonatal and benign infantile epilepsies. [epilepsyfoundationmn.org]

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]

Here are some of the best classified pediatric epilepsy syndromes, according to age of onset. [epilepsyfoundationmn.org]