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61 Possible Causes for Deafness, Hepatomegaly, Postural Defect

  • Amyloidosis

    Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome.[] Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level.[] Flies carrying mutant variants, but not wild-type TTR, exhibit changes in wing posture, locomotor defects, and shortened life span.[]

  • Cockayne Syndrome

    She was thin and frail; her neck, epiglottis and larynx were stiff; she was deaf and blind; and she could not speak, sit unaided, or perspire.[] It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[] Of these, failure to thrive, photosensitivity, and intellectual disability (language delays) developed before 2 or 3 years of age, whereas deafness, sunken eyes, and basal[]

  • Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] […] to regulate the body’s posture, as well as the strength and direction of the body’s movements.[] […] diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve deafness[]

  • Infantile Refsum Disease

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly[] Postural unsteadiness is evident when patients begin walking.[] The patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness[]

  • Hyperammonemia Type 3

    ) Part 4: onset in adulthood (15 years to more than 60 years) ( Table 66-33 ) Extrapyramidal signs (dyskinesia, dystonia, choreoathetosis, parkinsonism) ( Table 66-34 ) Deafness[] A congenital form occurs in two types: Type 1, due to deficiency of the enzyme ornithine carbamoyltransferase, is marked by vomiting, lethargy, coma, and hepatomegaly; symptoms[] Above 1000 µmol/L: About 50% survive Ammonia levels seen in inborn errors of metabolism: Urea cycle defects: 500 to 2000 µmol/L Organic acidemia: 100 to 1000 µmol/L Transport[]

  • Homocystinuria

    […] inborn error of metabolism of sulfur amino acids due to lack of the enzyme cystathionine synthase; it is characterized by homocystine in the urine and by mental retardation, hepatomegaly[] A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎[] Many, if not all, patients have some type of hepatic involvement which may produce mild hepatomegaly with imaging characteristics and/or biopsied pathology of fatty infiltration[]

  • Ocular Albinism

    The disease is characterized a susceptibility to infections, anemia (low blood count), and hepatomegaly (enlarged liver).[] Furthermore, patients should be counseled about maintaining a correct head posture to prevent nystagmus. Peripheral retinal defects are often treated with cryopexy.[] […] to be blind and deaf by early middle age.[]

  • Combined Oxidative Phosphorylation Defect Type 11

    : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Tongue fasciculations Abnormality of the abdomen Decreased liver function Feeding difficulties Hepatomegaly[] Treacher-Collins syndrome X-linked Charcot-Marie-Tooth disease type 4 X-linked Emery-Dreifuss muscular dystrophy X-linked myopathy with postural muscle atrophy Synonym(s)[] ] HGF Deafness, autosomal recessive 39 [MIM: 608265] SLC26A5 Deafness, autosomal recessive 61 [MIM: 613865] TMC1 Deafness, autosomal recessive 7 [MIM: 600974] DFNB31 Deafness[]

  • Noonan Syndrome

    Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation.[] Variants in BRAF, MAP2K1, MAP2K2, and KRAS have been identified in individuals with cardiofaciocutaneous (CFC) syndrome, a condition involving congenital heart defects, cutaneous[] This boy's phenotype is intermediate between NS and NSML with facial dysmorphism, short stature, mild global developmental delay, pulmonic stenosis, and deafness but absence[]

  • Acroosteolysis Dominant Type

    […] skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Hepatomegaly[] There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[] ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness.[]

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