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]

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]

• Developmental Delay

  NALD and infantile Refsum disease commonly present in the newborn period, but generally come to attention in infancy because of developmental delays, hearing loss, or visual impairment. [centogene.com]

  A range of symptoms are seen including developmental delay, sensorineural hearing loss, visual abnormalities, adrenal insufficiency and liver dysfunction. [rarediseases.org]

• Epilepsy

  Epilepsy may become more severe and sensorineural hearing loss may appear. Strabismus, nystagmus, and optic atrophy can also occur. [rarediseases.info.nih.gov]

  Attention-deficit disorder; epilepsy and other types of Addison disease; brain tumor; other types of leukodystrophy including arylsulfatase A deficiency (metachromatic leukodystrophy) and Krabbe disease (globoid cell leukodystrophy); subacute sclerosing [ncbi.nlm.nih.gov]

• Swelling

  Diffuse brain swelling is observed in the non-myelinated white matter secondary to vasogenic edema. [mrineonatalbrain.com]

• Vomiting

  Other symptoms may include vision loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, difficulty walking, poor coordination, fatigue, intermittent vomiting, darkening of the skin tone, and progressive dementia [healthinhandorganics.com]

• Nausea

  Symptoms of adrenal dysfunction typically include muscle weakness and fatigue, weight loss and decreased appetite, darkening of the skin, low blood pressure, fainting, cravings for salt, low blood sugar levels, irritability, depression, diarrhea, nausea [healthinhandorganics.com]

• 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]

• Osteoporosis

  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]

• 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]

• Muscle Hypotonia

  Abnormal clinical features in neonatal adrenoleukodystrophy are generally present at birth, and include muscle hypotonia, severe psychomotor retardation, and failure to thrive. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Hearing aids are provided to those with hearing impairment, and cochlear implants considered when hearing loss is profound. [orpha.net]

• 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]

• Peripheral Neuropathy

  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. The neurological regression is progressive. [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]

• Confusion

  Notes X-linked adrenoleukodystrophy (see this term) should not be confused with NALD. Biochemical Validated VLCFA is abnormal in all patients. [repository.innermed.eu]

  X-linked adrenoleukodystrophy (see this term) should not be confused with NALD. Antenatal diagnosis Prenatal screening of cultured amniocytes and chorionic villus sampling for VLCFA and plasmalogen synthesis is possible. [orpha.net]

• Encephalopathy

  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]

  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. The neurological regression is progressive. [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]

• Ataxia

  […] 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]

  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]

  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]

  Información de Salud Degenerative SA Friedreich’s ataxia Ataxia-telangiectasia. View in own window. [mclaughlinanderson.mobi]

  Visual loss, spasticity, and ataxia follow, and patients usually die a few years after the onset of neurologic symptoms. [neuropathology-web.org]

• 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. The neurological regression is progressive. [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]

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]

The treatment has serious risks of its own. [stopald.org]

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]

Patients that present in childhood or adolescence usually have a better prognosis, but can develop progressive liver disease or leukodystrophy and deteriorate. If progressive liver disease or leukodystrophy occurs prognosis is poor. [checkorphan.org]

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]

Prognosis Prognosis is unfavorable; death usually occurs at around 5 years from respiratory issues. Last updated: 2/4/2010 [rarediseases.info.nih.gov]

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]

Adrenoleukodystrophy Epidemiology Segmentation The disease epidemiology covered in the report provides historical as well as forecasted epidemiology [total prevalent cases, diagnosed prevalence of ALD by clinical manifestations (cerebral ALD, Adrenomyleoneuropathy [gii.co.jp]

Genetics 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]

[…] 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]

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). [healthinhandorganics.com]