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Congenital Disease

Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Nov 19, 2011.

  1. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    The baby is suffering from hearing loss , skin rash , hepatosplenomegaly in addition to IUGR

    [Broken External Image]:http://accessmedicine.net/loadBinary.aspx?name=ropp9&filename=ropp9_c038f014t.jpg
     

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  2. kangourou

    kangourou Famous Member

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    CT scan shows: Intracranial calcifications, enlarged ventricles (consistent with hydrocephalus), and possibly even signs of some cytic changes though difficult to tell on an image of this size.

    Combined with the clinical picture, this is: Congenital toxoplasmosis

    Treatment is with pyrimethamine and sulfadiazine for 12 months, together with folinic acid.
     

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  3. Aye Mya Htun

    Aye Mya Htun Famous Member

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    congenital rubells syndrome
     


  4. Egyptian Doctor

    Egyptian Doctor Moderator Verified Doctor

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    Answer : Congenital Toxoplasmosis
     


  5. neo_star

    neo_star Moderator

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    [​IMG]

    Non - infectious mimickers of congenital toxoplasmosis

    2 differentials are presented here (there could be more )

    1) Pseudotoxoplasmosis syndrome
    2) Aicardi-Goutieres syndrome aka Cree Encephalitis
    some consider the 2 syndromes to represent the same disorder


    [FONT=&amp]What is Pseudotoxoplasmosis syndrome?
    [/FONT]

    [FONT=&amp]a) A syndrome of microcephaly, chorioretinopathy and mental retardation suggesting toxoplasmosis. A similar association exists in the chorioretinal dysplasia-microcephaly-mental retardation syndrome which is transmitted as an autosomal dominant trait[/FONT]

    [FONT=&amp]
    b) Mental deficiency, choroideremia acrokeratosis, verruciformis anhidrosis and bone abnormalities[/FONT]

    [FONT=&amp]
    c) A rare syndrome originally described as comprising pulmonary valvular stenosis café-au-lait spots dull intelligence and short stature The phenotype has been later expanded to include macrocephaly and Lisch nodules in the majority of cases and neurofibromatosis in one-third of the affected persons Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome (the neurofibromatosis-Noonan syndrome)[/FONT]

    [FONT=&amp]
    d) Mental retardation with multiple congenital abnormalities consisting of craniofacial anomalies delayed development skeletal anomalies urogenital anomalies and deformed hands[/FONT]

    [FONT=&amp]
    Ans: A[/FONT]


    Discussion


    Pseudotoxoplasmosis syndrome (pseudo-TORCH syndrome) is a familial syndrome characterized by microcephaly, severe mental retardation and intracranial calcification of the cerebral white matter. Other manifestations include cerebral hypoplasia, cerebellar hypoplasia, hepatomegaly, abnormal liver function tests, petechiae, thrombocytopenia and congenital cataracts. The head circumference is usually smaller than normal at birth and the ocular fundi are usually normal, but a chorioretinopathy reminescent of congenital toxoplasmosis has been reported.

    The differential diagnosis includes components of the TORCH syndrome [toxoplasmosis, cytomegalovirus infection, Herpes virus type 1 infection, and Herpes virus type 2 infection] as well as Aicardi-Goutières syndrome.

    An infectious agent has not been detected and an autosomal recessive or X-linked recessive mode of inheritance has been suspected in some families.

    ref - The EyePathologist - Pseudo-toxoplasmosis syndrome - © Duke University


    pseudo TORCH.jpg

    Aicardi-Goutieres syndrome [Inheritance: autosomal recessive]

    Clinical features: cerebral atrophy; leukodystrophy; intracranial calcifications; chronic cerebrospinal fluid lymphocytosis

    fig 1.jpg


    fig 2.jpg


    ref - Aicardi-Goutieres syndrome 1

    Disclaimer: This is not an attempt at showing of my knowledge, but rather in the interest of those who face some relly creepy competitive exams where knowing such weird and rare stuff, decides who makes it and who doesn't.
     

    Last edited: Mar 14, 2013

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