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Neonatal Adrenoleukodystrophy

NALD


Presentation

  • Abstract In the present paper two siblings are presented with clinical manifestations very similar to those of patients affected by neonatal adrenoleukodystrophy.[ncbi.nlm.nih.gov]
  • Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly.[rarediseases.info.nih.gov]
  • Hepatomegaly may be present. Progressive sensorineural hearing deficit and visual disturbances develop during the first years of life. Nystagmus is present and eventually bilateral optic atrophy. The psychomotor development is very slow.[link.springer.com]
  • Adrenal insufficiency and renal calcium oxalate stones can present in older children. Vision and hearing dysfunction are progressive and result in blindness and deafness. Osteoporosis and fractures can occur in patients who are less mobile.[orpha.net]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
Aspiration
  • Anaesthetic induction and tracheal intubation should be performed to minimize the risk for aspiration of gastric contents.[ncbi.nlm.nih.gov]
Jaundice
  • Hepatic dysfunction is first displayed in infants with jaundice and later in some with episodes of intracranial bleeding due to vitamin K-responsive coagulopathy. Adrenal insufficiency and renal calcium oxalate stones can present in older children.[orpha.net]
Retinal Pigmentation
  • Additional findings included extensive loss of the retinal nerve fiber and ganglion cell layers, optic nerve degeneration, and bileaflet inclusions in retinal pigment epithelial cells and macrophages of the retina and optic nerve.[ncbi.nlm.nih.gov]
  • Ocular Findings Abnormal retinal pigmentation, with "leopard spots" and optic atrophy (Figure 1). The electroretinogram is nonrecordable. Other ocular findings include neonatal polar cataracts and strabismus. Figure 1.[aao.org]
Fracture
  • Osteoporosis and fractures can occur in patients who are less mobile. Neurological regression reflects a leukodystrophy, leading to the loss of previously acquired skills, dementia and ultimately death.[orpha.net]
Hearing Impairment
  • Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound.[orpha.net]
Low Set Ears
  • Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly.[rarediseases.info.nih.gov]
Hypertelorism
  • Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly.[rarediseases.info.nih.gov]
  • It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface), failure to thrive and severely delayed psychomotor development.[orpha.net]
Seizure
  • These very-early-onset seizures may require unique diagnostic and therapeutic considerations, in contrast with the later onset of seizures in neonates.[ncbi.nlm.nih.gov]
  • Standard epileptic drugs are used for seizures. Lifelong follow up is needed to monitor changes in hearing, vision and liver function. Prognosis Prognosis is poor with most patients dying in infancy and early childhood.[orpha.net]
Ataxia
  • Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function.[medical-dictionary.thefreedictionary.com]
  • […] with Central Nervous System Hypomyelination (CACH) Childhood Ataxia with Diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease) Craniometaphysical Dysplasia with Leukoencephalopathy Cystic Leukoencephalopathy (RNASET2 related) Elongation[huntershope.org]
  • Childhood ataxia with cerebral hypomyelination Childhood ataxia with cerebral hypomyelination (CACH), also known as vanishing white matter disease (VWMD), is an autosomal recessive leukodystrophy that is characterized by progressive deterioration in motor[rarediseases.org]
  • Visual loss, spasticity, and ataxia follow, and patients usually die a few years after the onset of neurologic symptoms.[neuropathology-web.org]
  • […] mutation of genes involved in translation of factor EIF-2B Clinical features Varies depending on type and age at presentation In infancy: often includes motor disabilities, macrocephaly, seizures or spasticity and developmental failure In childhood: ataxia[pathologyoutlines.com]
Cerebellar Ataxia
  • Ataxia and Dementia Familial Leukodystrophy with Adult Onset Dementia and Abnormal Glycolipid Storage Fatty Acid 2-Hydroxylase Deficiency Fucosidosis Fukuyama Congential Muscular Dystrophy Galactosialidosis Globoid Cell Leukodystrophy (Krabbe Disease[huntershope.org]
  • A variant of X-ALD, adrenomyeloneuropathy (AMN), is characterized by adrenal insufficiency since childhood with progressive spastic paraparesis, peripheral neuropathy, cerebellar ataxia, and intellectual deterioration beginning in the third decade.[neuropathology-web.org]
Spastic Paralysis
Apraxia

Workup

Diffuse Encephalopathy
  • It is characterized by seizures at birth, a diffuse encephalopathy , impaired vision and hearing, peripheral neuropathy , facial dimorphism, growth impairment and a severely delayed psychomotor development.[ela-asso.com]
  • It is characterized by hypotonia, seizures, diffuse encephalopathy, sensorineural hearing loss, peripheral neuropathy, mild facial dysmorphism (hypertelorism and a flat midface), failure to thrive and severely delayed psychomotor development.[orpha.net]
  • It is characterized by hypotonia, seizures , diffuse encephalopathy , sensorineural hearing loss , peripheral neuropathy , mild facial dysmorphism (hypertelorism and a flat midface), failure to thrive and severely delayed psychomotor development.[rarediseases.info.nih.gov]

Treatment

  • Diagnosis It is based on the determination of plasma VLCFA, phytanic acid, bile and pipecolic acids intermediates Treatments Treatment of adrenal insufficiency The extremely simple treatment is based on prescription of hydrocortisone or fludrocortisone[ela-asso.com]
  • Management and treatment There is no cure for NALD and treatment is symptomatic. Cataracts should be removed in early infancy and glasses used to improve vision.[orpha.net]
  • Management and treatment No specific treatment is available. Multidisciplinary supportive care should be offered. Prognosis Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues. Last updated: 2/4/2010[rarediseases.info.nih.gov]

Prognosis

  • Prognosis Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues. Last updated: 2/4/2010[rarediseases.info.nih.gov]
  • Prognosis Prognosis for childhood and neonatal ALD patients is poor because of the progressive myelin degeneration. Death usually occurs between one and ten years after onset of symptoms. Prevention Resources Books Berkow, Robert.[medical-dictionary.thefreedictionary.com]
  • Prognosis Prognosis is poor with most patients dying in infancy and early childhood. Some have lived until their teenage years. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • A review of the literature revealed that the main etiologies include severe brain malformations, multiple anomalies, and metabolic encephalopathy. A high incidence of early fatality and serious neurologic sequelae were noted.[ncbi.nlm.nih.gov]
  • Etiology Peroxisomal acyl-CoA oxidase deficiency is caused by mutations in the ACOX1 gene (17q25.1) encoding peroxisomal straight-chain acyl-CoA oxidase.[rarediseases.info.nih.gov]
  • Etiology PBD-ZSS is caused by mutations in one of 13 PEX genes encoding peroxins. Mutations in these genes lead to abnormal peroxisome biogenesis.[orpha.net]

Epidemiology

  • OMIM Numbers 202370 Inheritance Autosomal recessive Gene/Gene Map Caused by mutations in PTS1 receptor gene ( PXR1 , OMIM 600414), peroxin-1 gene ( PEX1 , OMIM 602136), peroxin-10 gene ( PEX10 , OMIM 602859), and peroxin-13 gene ( PEX13 , OMIM 601789) Epidemiology[aao.org]
  • Epidemiology Acyl-CoA oxidase deficiency is a rare disease with only 30-40 patients identified world-wide so far. Clinical description The disease manifests in the neonatal period with hypotonia (92%) and seizures (91%) as dominant features.[rarediseases.info.nih.gov]
  • Summary Epidemiology The estimated birth prevalence for PBD-ZSS is 1/50,000 in North America and 1/500,000 in Japan. More than half of patients with PBD-ZSS have the NALD-IRD forms.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • […] etiology: peroxisomal, lysosomal and other Peroxisomal: adrenoleukodystrophy and neonatal adrenoleukodystrophy Lysosomal: Krabbe disease and metachromatic leukodystrophy Other: Alexander disease, Canavan disease, vanishing white matter disease, others Pathophysiology[pathologyoutlines.com]
  • Report Scope The report covers detailed overview of Adrenoleukodystrophy explaining its causes, symptoms, classification, pathophysiology, diagnosis and treatment patterns The report provides the insight about the historical and forecasted patient pool[gii.co.jp]
  • The underlying pathophysiological mechanism in urea cycle defects (vasogenic edema) is different from that in MSUD (vacuolating myelinopathy), as demonstrated by the distinctly different presentations on diffusion-weighted images.[mrineonatalbrain.com]

Prevention

  • Symptoms - Zellweger Spectrum Disorder Causes - Zellweger Spectrum Disorder Prevention - Zellweger Spectrum Disorder Zellweger spectrum disorder cannot be prevented.[checkorphan.org]
  • Prevention There are currently no known ways to prevent adrenoleukodystrophy (ALD).[livingnaturallyonline.com]

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