Respiratory Failure in Infancy: Causes & Reasons

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Possible Causes for Respiratory Failure in Infancy

Nemaline Myopathy Type 4

Results: Our patient presented at birth with hypotonia and weakness, and subsequently developed respiratory failure in infancy. [omicsonline.org]

Our case presented at birth with hypotonia and weakness, and he subsequently developed respiratory failure in infancy requiring biPAP at night. [ashg.org]

RESULTS: Our patient presented at birth with hypotonia and weakness and subsequently developed respiratory failure in infancy. [neurologiaspedalicivili.blogspot.it]

Jeune Syndrome

Furthermore, most patients with Jeune syndrome (approximately 60-70%) die from respiratory failure in early infancy and early childhood. [thehealthscience.com]

The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. [ncbi.nlm.nih.gov]

Jeune syndrome, a rare autosomal recessive disorder characterized by skeletal abnormalities of the thorax and extremities, is associated with respiratory distress in infancy [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy Type 1

failure typically beginning in infancy. [mda.org.nz]

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness [ncbi.nlm.nih.gov]

Spinal muscular atrophy with respiratory distress type 1 ( SMARD1 ) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy [ghr.nlm.nih.gov]

Nemaline Myopathy Type 8

While respiratory failure or lung infections can be life-threatening in infancy, some affected infants survive to adulthood. [mda.org]

In severe cases early-onset motor delay leads to progressive weakness with spine rigidity, early loss of ambulation, and death in infancy or childhood due to respiratory failure [emedicine.medscape.com]

X-Linked Centronuclear Myopathy

Because of their severe breathing problems, individuals with severe XLMTM usually have a high incidence of death from respiratory failure in infancy or early childhood. [secure.ssa.gov]

Most affected individuals have a severe form of the disorder and respiratory failure is an almost uniform occurrence. [metrohealth.net]

ICD-9: 359.0 Congenital hereditary muscular dystrophy ONSET AND PROGRESSION XLMTM presents at birth with weakness, hypotonia and respiratory distress. [secure.ssa.gov]

Aicardi-Goutières Syndrome Type 7

(SAVI), characterised by skin vasculopathy and interstitial lung disease leading to end-stage respiratory failure. [theses.fr]

Activating mutations in TMEM173, encoding stimulator of IFN genes (STING), cause a severe inflammatory condition referred to as STING-associated vasculopathy with onset in infancy [theses.fr]

Fatal Infantile Hypertonic Myofibrillar Myopathy

Progressive muscular rigidity with respiratory failure in infancy: a new myopathy. Can J Neurol Sci ; August 1979, 6 : 379 (abstract). 3. Dudley, AW. [cambridge.org]

Distal Hereditary Motor Neuropathy Type 1

failure typically beginning in infancy. [mda.org.nz]

[…] known as distal spinal muscular atrophy Tpe 1 (DSMA1) or distal hereditary motor neuropathy Type 6 (dHMN6 or HMN6) is an inherited condition that causes muscle weakness and respiratory [mda.org.nz]

Spondyloepiphyseal Dysplasia Congenita

This case involves an infant who died of respiratory failure 36 hours after birth. [ncbi.nlm.nih.gov]

The result is rib shortening, a dysplastic thorax that is not only short but also narrowed, and respiratory failure. [ncbi.nlm.nih.gov]

A dysplastic small volume thorax in infancy, leading to serious respiratory embarrassment, must be included into the clinical and radiological pictures of SED congenita. [ncbi.nlm.nih.gov]

Osteogenesis Imperfecta Type 2

The children are usually stillborn or die of respiratory failure in early infancy. [medicinenet.com]

Respiratory failure and accidental trauma are the most frequent causes of death for people who have osteogenesis imperfecta. [gillettechildrens.org]

The most severe forms of osteogenesis imperfecta result in death at birth or during infancy. [gillettechildrens.org]

Chaotic Atrial Tachycardia

Surgical closure of the OSASD will be considered in our patient, during infancy, if the auricular arrhythmia recurred or if other indications of surgery occurred such as failure [latunisiemedicale.com]

[…] to thrive, pulmonary hypertension or recurrent respiratory infections (8). [latunisiemedicale.com]

Nemaline Myopathy

Respiratory failure due to functional impairment of respiratory muscles or aspiration pneumonia usually leads to death in infancy. [symptoma.com]

NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. [uniprot.org]

Severe congenital and Amish NM are the most severe forms of the disease and are generally associated with death due to respiratory failure in infancy. [symptoma.com]

Spondylocostal Dysostosis

Most cases die in infancy due to respiratory failure. In this report we describe two cases in one family from the United Kingdom. [ncbi.nlm.nih.gov]

Prognosis of the disease is bad as individuals either die in infancy of respiratory failure and individuals who survive with severe anomalies are very rare. [symptoma.com]

Osteogenesis Imperfecta Type 3

The children are usually stillborn or die of respiratory failure in early infancy. [medicinenet.com]

Respiratory failure and accidental trauma are the most frequent causes of death for people who have osteogenesis imperfecta. [gillettechildrens.org]

The most severe forms of osteogenesis imperfecta result in death at birth or during infancy. [gillettechildrens.org]

3M Syndrome

Death in early infancy due to respiratory failure is another clue to the diagnosis, which might have a variable phenotype within a family. [edm.bioscientifica.com]

A distant relative from the maternal side had three affected children, two of which also died during infancy with respiratory failure. [edm.bioscientifica.com]

While two siblings died during infancy with thoracic asphyxiating syndrome and respiratory failure, the other two siblings showed no adverse respiratory features. [edm.bioscientifica.com]

Stuve-Wiedemann Syndrome

During infancy, she also developed episodes of respiratory failure necessitating admission to intensive care, and periods of hyperhidrosis managed at home. [ncbi.nlm.nih.gov]

Marshall-Smith Syndrome

We have reported a case of the Marshall-Smith syndrome, a condition characterized by accelerated bone maturation, dysmorphic features, respiratory compromise, failure to thrive [ncbi.nlm.nih.gov]

Marshall-Smith syndrome (MSS) is a rare clinical disorder, characterized by accelerated skeletal maturation, facial anomalies, failure to thrive and death in early infancy [ncbi.nlm.nih.gov]

Pneumonia [ 4 ] Failure to thrive [ 4 ] Psychomotor retardation [ 4 ] Respiratory complications are often cause of death in early infancy. [ 2 ] Alternate names Translated [dictionnaire.sensagent.leparisien.fr]

Osteogenesis Imperfecta Type 13

The children are usually stillborn or die of respiratory failure in early infancy. [medicinenet.com]

Spinal Muscular Atrophy Type 1

Without intervention, death occurs in infancy due to respiratory failure. [ncbi.nlm.nih.gov]

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy [ghr.nlm.nih.gov]

Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. [ghr.nlm.nih.gov]

Multicore Myopathy with External Ophthalmoplegia

Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014 ).For a discussion of [mendelian.co]

Most patients die in infancy. [mendelian.co]

failure Respiratory insufficiency Polyhydramnios Facial palsy Akinesia Rare Symptoms - Less than 30% cases Severe muscular hypotonia Arthrogryposis multiplex congenita Cardiomyopathy [mendelian.co]

Waters-West Syndrome

[…] insufficiency Pericardial effusion Respiratory failure Hepatic steatosis Ophthalmoplegia Acrania Metabolic acidosis Feeding difficulties in infancy Abnormality of the liver [mendelian.co]

[…] tract Frontotemporal cerebral atrophy Neonatal sepsis Type II transferrin isoform profile Fatal liver failure in infancy Complex febrile seizures Abnormal protein O-linked [mendelian.co]

[…] tract infections Failure to thrive in infancy Shock Limb hypertonia Thick hair Diarrhea Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal [mendelian.co]

Distal Arthrogryposis Type 2B3

Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [owlapps.net]

X-linked Distal Spinal Muscular Atrophy Type 3

Their respiratory muscles are very weak and they often do not survive past infancy due to respiratory failure. [ghr.nlm.nih.gov]

The disorder is usually fatal in infancy or early childhood due to progressive respiratory failure, although survival into teenage years have been reported. [3] As with many [en.wikipedia.org]

Lethal Muscular Hypertonia

Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014 ).For a discussion of [mendelian.co]

Respiratory failure Low-set ears Wide nasal bridge Aplasia/Hypoplasia of the corpus callosum Abnormality of the genital system Oxycephaly Hearing impairment Abnormality of [mendelian.co]

MYOPATHY 10; NEM10 Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory [mendelian.co]

Myopathy with Abnormal Lipid Metabolism

hypotonia, cardiomyopathy, respiratory failure, generalized weakness Childhood–adult: progressive weakness, respiratory failure Type III (Cori–Forbes disease) Debranching [mhmedical.com]

The patients usually die before 12 months of age due to heart failure and respiratory weakness (12, 16 and 20). Childhood-onset form. [annalsofneurosciences.org]

[…] enzyme (amylo-1,6-glucosidase) Autosomal recessive Infancy: hypotonia, generalized weakness Childhood/adult: proximal or distal weakness, spasticity, dementia, incontinence [mhmedical.com]

Freeman-Sheldon Syndrome

There are rare cases of patients dying during infancy from respiratory failure. [syndrome.org]

Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [owlapps.net]

Bronchitis and pneumonitis often happen after seemingly mild infections of the upper respiratory tract. [syndrome.org]

Pseudohypoparathyroidism Type 1A

Objective: To describe a case of morbid obesity and respiratory failure in a child with PHP1A. [bone-abstracts.org]

Presenting problem: A 4-year-old boy was admitted to the Emergency department due to respiratory failure and somnolence. [bone-abstracts.org]

He was diagnosed during infancy with PHP1A and was treated with levothyroxine, calcium carbonate, alfacalcidiol and vitamin D. [bone-abstracts.org]

Ellis-Van Creveld Syndrome

The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. [ncbi.nlm.nih.gov]

Infant mortality rates among patients with Ellis-van Creveld syndrome More Details are high primarily due to cardio respiratory failure; if they survive infancy, morbidity [ijri.org]

Symptomatic management is mostly required in the neonatal period, including treatment of the respiratory distress due both to narrow chest and heart failure. [ncbi.nlm.nih.gov]

Neuhauser Syndrome

Renal and pancreatic symptoms are found in longer survivors, although most cases die in infancy of respiratory failure. Seven neonatal cases were studied at necropsy. [pdfs.semanticscholar.org]

Hypochondrogenesis

We describe two sporadic PLSD-T patients; the first was perinatally lethal, while the second is living after surviving respiratory failure in infancy. [jmg.bmj.com]