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157 Possible Causes for Coarse Facial Features, Recurrent Pneumonia

  • Chronic Alcoholism

    The decision was taken to keep the stents in long‐term but bilateral nephrectomy was considered in view of persisting sloughing and recurrent sepsis.[] Unfortunately, he developed a pneumonia and was too unwell for any surgical intervention. He decided to discontinue any further dialysis and passed away 4 days later.[]

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal.[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] Clinical manifestations include dyspnea, difficulties with clearing secretions, cough, wheezing, and recurrent bronchitis or pneumonia.[] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[]

  • Mucopolysaccharidosis 6

    Patients are typically susceptible to developing obstructive and restrictive lung disease which are accompanied by complications such as recurrent pneumonia and obstructive[] Presentation Patient with coarse facial features, cardiac murmure, gibbus and dental decay.[] Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[]

  • Old Age

    In a previous chapter, it has been shown that anemia is prevalent among older persons. This chapter will describe that anemia is not only prevalent, but also has important adverse clinical consequences. For instance, anemia has been associated with decreased physical function, elevated risks for falls and fractures,[…][]

  • Alpha-Mannosidosis

    Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[] facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex).[] The typical signs consist of hearing impairment, intellectual disabilities, coarse facial features and motor function disturbances.[]

  • Primary Immune Deficiency Disorder

    Important signs that may indicate a PIDD include: • Recurrent, unusual or difficult to treat infections • Poor growth or loss of weight • Recurrent pneumonia, ear infections[] facial features; delayed shedding of baby teeth; osteopenia; recurrent fractures; tissue and blood eosinophilia MHC antigen deficiencies Autosomal recessive Various including[] Coarse facial features and severe eczema suggest a hyper-IgE syndrome, whereas vitiligo or alopecia areata are associated with mucocutaneous candidiasis with autoimmune polyglandular[]

  • Congenital Neutropenia

    Untreated patients may suffer from chronic gingivitis, oral ulcers, skin abscesses, recurrent pneumonia, or septicemia [1].[] LAMTOR2 – Members of a Mennonite family with a homozygous LAMTOR2 regulatory variant were reported to have neutropenia with short stature, hypopigmented skin, coarse facial[] Congenital neutropenia renders the patient very susceptible to infectious diseases, which manifests in form of recurrent, severe pneumonia, dermatitis, stomatitis and periodontitis[]

  • Fucosidosis

    Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features[] Infants and young children with this disorder are prone to recurrent sinus and pulmonary infections and often die of pneumonia.[] facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.[]

  • Adrenocortical Carcinoma

    We describe a case of congenital non-functional adrenocortical carcinoma in a male infant who presented with recurrent pneumonia, paraparesis and sclerotic skeletal metastasis[] That patient experienced local recurrence at the tumour bed 8 months after surgery and died of pneumonia. The other 4 patients had T2 disease.[]

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