Fucosidosis is a disorder that may have a variable presentation even in individuals belonging to one family. Even though the symptoms elicited remain the same, patients may be affected by fucosidosis with an early onset and rapid progression, or a disease that is diagnosed during adolescence and progresses slowly with less profound symptoms.

The most severe type of fucosidosis tends to initially manifest at a time between the 6th month to the 1st year of an infant's life. Symptoms include psychomotor retardation, namely the slowing-down of emotional and physical reactions to various stimuli. Other findings that may be revealed in a physical examination may include [1]:

• Coarse facial features, such as large lips and nose, prominent forehead, widely spaced teeth
• Mild dysostosis multiplex
• Hypotonia
• Significant growth retardation

Fucosidosis primarily leads to a neurodegeneration due to central nervous system myelin loss. This is evident by means of mental retardation, loss of coordination, and rigidity of the extremities that involves extension and rotation (decerebrate rigidity) [2] [3] [4]. As the disease progresses, the loss of weight and muscle mass sustained may constitute life-threatening sequelae that can lead to a patient's demise even within the first years of life.

Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis, and persistent respiratory infections. Hyperhidrosis is another potential symptom.

Symptoms are identical in less severe as well as more severe forms of Fucosidosis. However, they may be milder and may progress more slowly in the less severe forms. Angiokeratomas usually form on the skin at the age of approximately 2 years and are primarily found on the abdomen, thighs, and genital areas. Contractures, spasticity, and anhidrosis may also complicate the clinical picture.

• Splenomegaly

  […] with eventual dementia progressive motor deterioration: initially hypotonia before spasticity manifests coarse facies dwarfism and other muscoskeletal anomalies recurrent respiratory infections angiokeratomas organomegaly : glossomegaly, hepatomegaly, splenomegaly [radiopaedia.org]

  If types are used, the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly), and/or heart (cardiomegaly) abnormal bone formation [dermaamin.com]

  […] respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Scoliosis Abnormal curving of the spine 0002650 Shield chest 0000914 Short stature Decreased body height Small stature [ more ] 0004322 Splenomegaly [rarediseases.info.nih.gov]

  Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. [icd10data.com]

• Coarse Facial Features

  facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. [orpha.net]

  Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent [ncbi.nlm.nih.gov]

  Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex. [omicsonline.org]

• Short Stature

  At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features. A skeletal survey showed dysostosis multiplex. [ncbi.nlm.nih.gov]

  The clinical examination revealed short stature, coarse facial features, bilateral ptosis, hypertonic lower extremities, psychomotor retardation and asthma. [omicsonline.org]

  Bone cells are involved which can result in short stature, coarse facial features, and prominent eyes. Seizures have been reported. The liver and spleen are often enlarged but cells of the kidney and pancreas are involved as well. [disorders.eyes.arizona.edu]

  stature Decreased body height Small stature [ more ] 0004322 Splenomegaly Increased spleen size 0001744 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick lower lip vermilion Increased volume [rarediseases.info.nih.gov]

• Progressive Intellectual Disability 

  Typical clinical features, as described in decreasing order of frequency in one relatively large case series, include 1,2 : progressive intellectual disability with eventual dementia progressive motor deterioration: initially hypotonia before spasticity [radiopaedia.org]

  Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. [en.wikipedia.org]

• Weight Loss

  Signs can include loss of learned behavior, change in temperament, blindness, loss of balance, deafness and weight loss. [vetgen.com]

  Canine fucosidosis is found in the English Springer Spaniel.Typically affecting dogs between 18 months and four years, symptoms include: Loss of learned behavior Change in temperament Blindness Loss of balance Deafness Weight loss From the onset, disease [en.wikipedia.org]

• Failure to Thrive

  Some symptoms they may experience include: intellectual disability delay in motor skills development impaired or slow growth (failure to thrive) abnormal skeletal development (dysostosis multiplex) seizures abnormal muscle contractions (spasticity) distinctive [childrenshospital.org]

  Showing of 60 | 80%-99% of people have these symptoms Anterior beaking of lumbar vertebrae 0008430 Brachycephaly Short and broad skull 0000248 Coarse facial features Coarse facial appearance 0000280 Dysostosis multiplex 0000943 Failure to thrive Faltering [rarediseases.info.nih.gov]

  A 7-year-old female patient was admitted to our outpatient clinic with complaints of failure to thrive, loss of acquired motor skills, and generalized dystonia. [annalsofian.org]

• Macroglossia

  The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade [connects.catalyst.harvard.edu]

  Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Macroglossia [rarediseases.info.nih.gov]

  The infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures, recurrent infections, and macroglossia, with death occurring in the first decade [icd10data.com]

  Her tongue was protruding due to macroglossia. There were red streaks on gingivae and blue-brown spots on tongue. She had no angiokeratomas in genital area and trunk. There was no hepatosplenomegaly. [annalsofian.org]

• Cardiomegaly

  […] fucosidosis [ fu″ko-sĭ-do´sis ] a hereditary disease due to deficient enzymatic activity of fucosidase and resulting in accumulation of fucose in all tissues; marked by progressive cerebral degeneration, muscle weakness with eventual spasticity, emaciation, cardiomegaly [medical-dictionary.thefreedictionary.com]

  Fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. [ncbi.nlm.nih.gov]

  […] dementia progressive motor deterioration: initially hypotonia before spasticity manifests coarse facies dwarfism and other muscoskeletal anomalies recurrent respiratory infections angiokeratomas organomegaly : glossomegaly, hepatomegaly, splenomegaly, and cardiomegaly [radiopaedia.org]

  If types are used, the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly), and/or heart (cardiomegaly) abnormal bone formation [dermaamin.com]

  […] from a defect in glyoxalate metabolism Lysosomal storage disease caused by defective alpha-l-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly [icd9data.com]

• Acrocyanosis

  Other cutaneous features in this patient included distal transverse purple nail bands, acrocyanosis and a naevus anaemicus. Histology and electron microscopy of skin papules was consistent with angiokeratoma. [ncbi.nlm.nih.gov]

  Vascular skin abnormality 0011276 5%-29% of people have these symptoms Abnormal pyramidal sign 0007256 Abnormality of the dentition Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ] 0000164 Abnormality of the nail 0001597 Acrocyanosis [rarediseases.info.nih.gov]

• Hepatomegaly

  He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. [ncbi.nlm.nih.gov]

  Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. [uniprot.org]

  Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, hepatomegaly, and dysostosis multiplex. [omicsonline.org]

  […] disability with eventual dementia progressive motor deterioration: initially hypotonia before spasticity manifests coarse facies dwarfism and other muscoskeletal anomalies recurrent respiratory infections angiokeratomas organomegaly : glossomegaly, hepatomegaly [radiopaedia.org]

  If types are used, the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly), and/or heart (cardiomegaly) abnormal bone formation [dermaamin.com]

• Hepatosplenomegaly

  It causes mental retardation, neurological deterioration, coarse facial features, thickened skin, and hepatosplenomegaly. [medical-dictionary.thefreedictionary.com]

  The more severe (infantile or type I) phenotype includes rapidly progressive mental retardation, hepatosplenomegaly, severe dysostosis multiplex, and often death between 3 and 12 years of age. [ommbid.mhmedical.com]

  There was no hepatosplenomegaly. Her neurological examination revealed spastic tetraparesis dominated by dystonic posturing. Increased tendon reflexes and multilevel joint contractures were observed. [annalsofian.org]

  Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities. [icd10data.com]

  […] oxalate, resulting from a defect in glyoxalate metabolism Lysosomal storage disease caused by defective alpha-l-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly [icd9data.com]

• Hearing Impairment

  Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis, and persistent respiratory infections. [symptoma.com]

  impairment Deafness Hearing defect [ more ] 0000365 Hepatomegaly Enlarged liver 0002240 Hyperhidrosis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Hypothyroidism Underactive thyroid [rarediseases.info.nih.gov]

• Increased Sweating

  Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ] 0000975 Hypothyroidism Underactive thyroid 0000821 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental [rarediseases.info.nih.gov]

• Muscle Spasticity

  The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade [connects.catalyst.harvard.edu]

  The infantile form (type i) features psychomotor deterioration, muscle spasticity, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, seizures, recurrent infections, and macroglossia, with death occurring in the first decade [icd10data.com]

• Coxa Valga

  The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga. The clavicles are short, thick and irregular and the ribs are oar shaped. Phalanges are shortened and trapezoidal in shape. [themedicalbiochemistrypage.org]

  valga 0002673 Dry skin 0000958 Elevated sweat chloride 0012236 Flexion contracture Flexed joint that cannot be straightened 0001371 Frontal bossing 0002007 Hernia 0100790 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability [rarediseases.info.nih.gov]

• Frontal Bossing

  bossing 0002007 Hernia 0100790 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lumbar hyperlordosis Excessive [rarediseases.info.nih.gov]

• Coarse Face

  He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. [ncbi.nlm.nih.gov]

• Seizure

  […] is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures [orpha.net]

  Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent [ncbi.nlm.nih.gov]

  Physical findings: Physical findings for individuals with Fucosidosis Type I include: • Distinct facial features such as, flat face, depressed nasal bridge, and bulging forehead; • Spasticity; • Seizures; • Progressive psychomotor and neurological deterioration [secure.ssa.gov]

• Dystonia

  Even among the 4 other reported fucosidosis families having one or more individuals homozygous for this same (Q422X) mutation there was no previous report of dystonia. [ncbi.nlm.nih.gov]

  First child of family was investigated because of severe spasticity and generalized dystonia. [annalsofian.org]

  She presented to us at 8 years of age in bed bound state with spasticity and generalized dystonia. She had lost her language skills and currently indicates toilet needs and makes sounds without any meaningful words. [pediatricneurosciences.com]

• Delayed Development of Motor Skills

  People with this condition often have delayed development of motor skills such as walking; the skills they do acquire deteriorate over time. [ghr.nlm.nih.gov]

  People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. In severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. [diseaseinfosearch.org]

The first step towards a successful diagnosis of Fucosidosis is a detailed medical history and a meticulous clinical examination. The patients are, in the majority of the cases, in their first year of life and parents report signs associated with mental retardation; the infant also appears to be lacking in terms of growth and neurological development. Characteristic skeletal and facial features are also noticeable and may indicate the diagnosis. Further tests that may be employed in order to diagnose Fucosidosis include:

• Electron microscopy samples are harvested from the heart, liver, spleen, lung and other viscera. Electron microscopy reveals intracellular vacuoles, either clear or filled with granulomatous/lamellar bodies.
• Magnetic resonance imaging (MRI), computerized tomography (CT) are both employed in order to detect degenerative alterations of the cerebral parenchyma. The use of CT scans has specifically increased during the recent years [5] [6] [7].
• Urinalysis may illustrate fucose-containing complex compounds.
• Enzyme assays show decreased activity of the enzyme alpha-L-fucosidase.
• Prenatal testing: Fucosidosis can also be confirmed prenatally, by means of chorionic villus sampling (CVS) and amniocentesis.

Treatment The first line of treatment for Blackfan Diamond anemia is to give the child steroid medication, usually prednisone. [rarediseases.about.com]

However, due to the risks and exclusion criteria of this treatment additional therapies are required. [ncbi.nlm.nih.gov]

Treatment: There is no treatment or way to reverse the disease. Treatment will focus on the symptoms an individual has, such as seizure medication. [en.wikipedia.org]

Is there a treatment for Fucosidosis? Individuals with Fucosidosis should have routine follow-up with Genetics, Neurology, Ophthalmology, and other specialists as needed. [web.archive.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Because of the slowly progressing psychomotor retardation and recurrent upper respiratory tract infections that the prognosis for patients with this disease is poor. Treatment appears to be aimed at early diagnosis through amniocentesis. [ncbi.nlm.nih.gov]

Diagnosis and Prognosis: Pediatricians and neurologists usually make the diagnosis. No specific treatment is available for the primary disease but supportive treatment such as respiratory therapy can help many patients. [disorders.eyes.arizona.edu]

Treatment and prognosis Although bone marrow transplant has been reported as an effective treatment, this is very uncommonly performed, and only after careful patient selection 1,8. [radiopaedia.org]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

We conclude that the epidemiology of these diseases can vary regionally, and we stress the need for similar surveys in other Latin American countries. [Indexed for MEDLINE] Free full text [ncbi.nlm.nih.gov]

Note English: 1985 Allowable Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology [decs.bvs.br]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Addition of placental alpha-L-fucosidase to the culture medium of fucosidosis fibroblasts prevented excessive accumulation of fucose-containing material and accelerated the breakdown of material accumulated prior to enzyme uptake. [ncbi.nlm.nih.gov]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.de]

1. Willems PJ, Gatti R, Darby JK, et al. Fucosidosis Revisited: A Review of 77 Patients. Am J Med Genet. 1991;38(1):111–131
2. Folkerth RD. Abnormalities of developing white matter in lysosomal storage diseases. J Neuropathol Exp Neurol. 1999;58:887–902.
3. Prietsch V, Arnold S, Kraegeloh-Mann I, et al. Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. Neuropediatr. 2008;39:51–4
4. Steenweg ME, Vanderver A, Blaser S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain. 2010 Oct;133(10):2971-82
5. Terespolsky D, Clark JT, Blaser SI. Evolution of the Neuroimaging Changes in Fucosidosis Type II. J Inherit Metab Dis. 1996;19(6):775–781
6. Smith-Bindman R, Lipson J, Marcus R, et al. Radiation dose associated with common computed tomography examinations and the associated lifetime attributable risk of cancer. Arch Intern Med. 2009 Dec 14;169(22):2078-86.
7. Berrington de González A, Mahesh M, Kim KP, et al. Projected cancer risks from computed tomographic scans performed in the United States in 2007. Arch Intern Med. 2009 Dec 14;169(22):2071-7.