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Endemic Cretinism Neurological Type
Congenital Iodine Deficiency Syndrome Neurological Type

Presentation

In our case, the risk for thyrotoxicosis was present in the 31st week of gestation (maternal TSI =18.8 IU/l). (Table 2). [tmj.ro]

It presents in three major forms i.e. thyroid ectopy, athyreosis and thyroid hypoplasia. [ncbi.nlm.nih.gov]

Entire Body System

  • Goiter

    If the patient has obvious clinical symptoms (goiter, cardiac failure, exophtalmia) with significant TSH suppression, the infant should receive a beta blocker and an antithyroid drug. [tmj.ro]

Gastrointestinal

  • Vomiting

    Features of this condition in the neonate include hyperkinesis, diarrhoea, poor weight gain, vomiting, ophthalmopathy, cardiac failure and arrhythmias, systemic and pulmonary hypertension, hepatosplenomegaly, jaundice, hyperviscosity syndrome, thrombocytopenia [tmj.ro]

Neurologic

  • Irritability

    Electroencephalogram showed an irritative trace. [tmj.ro]

  • Agitation

    At the age of two weeks the newborn presented psychomotory agitation, growth retardation, jaundice – reasons for hospital addmission. [tmj.ro]

Treatment

Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism. [ncbi.nlm.nih.gov]

The treatment for neonates is driven by the clinical symptoms and laboratory values. [tmj.ro]

Etiology

[…] never be delayed pending the determination of etiology. [ncbi.nlm.nih.gov]

Epidemiology

Epidemiology. 2013;24:150–7. [PubMed] [Google Scholar] 4. Delange F. Neonatal screening for congenital hypothyroidism: Results and perspectives. Horm Res. 1997;48:51–61. [PubMed] [Google Scholar] 5. [ncbi.nlm.nih.gov]

Prevention

Abstract Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. [ncbi.nlm.nih.gov]

Further neurological and psychosomatic evaluation is required for preventing long term modifications. Genetic counseling is important, taking into account the risk of developing autoimmune pathology. [tmj.ro]

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