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1.
J Trop Pediatr ; 62(4): 338-40, 2016 08.
Article in English | MEDLINE | ID: mdl-26936928

ABSTRACT

BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism. Further evaluation revealed moderate sensorineural hearing loss; genetic analysis showed that baby was homozygous for the known mutations causing the disease. INTERVENTION: Thyroid hormone replacement and hearing habilitation were done. Follow up showed regression of the neck mass and normalization of thyroid function tests. Genetic counseling of the family was done. MESSAGE: Identification of the exact cause of congenital hypothyroidism can prevent grave consequences later on for the patient as well as for the family.


Subject(s)
Congenital Hypothyroidism/diagnosis , Goiter, Nodular/diagnosis , Goiter/diagnosis , Hearing Loss, Sensorineural/diagnosis , Congenital Hypothyroidism/genetics , Goiter/congenital , Goiter/genetics , Goiter, Nodular/congenital , Goiter, Nodular/genetics , Hearing Loss, Sensorineural/congenital , Hearing Loss, Sensorineural/genetics , Humans , Infant, Newborn , Mutation , Thyroid Function Tests
2.
Audiol Neurootol ; 17(5): 321-30, 2012.
Article in English | MEDLINE | ID: mdl-22739546

ABSTRACT

OBJECTIVE: To investigate the use of hearing preservation cochlear implantation in children with partial deafness. PATIENTS AND METHODS: Five children with either drug-induced or congenital partial deafness were enrolled in a pilot study. The patients ranged in age from 13 months to 14 years. Implantation was performed using a hearing preservation technique. A Flex EAS electrode (MED-EL, Innsbruck, Austria) was used in all full insertions. RESULTS: Low frequency hearing was preserved in all patients with postoperative bone conduction within 10 dB of the preoperative hearing levels. These changes were preserved over the follow-up period of 12 months. There were significant improvements in speech perception. CONCLUSION: Hearing preservation cochlear implantation is a new effective modality in children with partial deafness.


Subject(s)
Cochlear Implantation/methods , Cochlear Implants , Deafness/chemically induced , Deafness/surgery , Acoustic Stimulation/methods , Adenocarcinoma, Clear Cell/drug therapy , Adolescent , Antineoplastic Agents/adverse effects , Cerebellar Neoplasms/drug therapy , Child , Child, Preschool , Deafness/congenital , Female , Follow-Up Studies , Goiter, Nodular/chemically induced , Goiter, Nodular/congenital , Goiter, Nodular/surgery , Hearing/physiology , Hearing Loss, Sensorineural/chemically induced , Hearing Loss, Sensorineural/congenital , Hearing Loss, Sensorineural/surgery , Humans , Infant , Kidney Neoplasms/drug therapy , Male , Platinum/toxicity , Prospective Studies
3.
Ann Trop Paediatr ; 10(4): 369-72, 1990.
Article in English | MEDLINE | ID: mdl-1708964

ABSTRACT

A 7-year-old girl from an area where endemic goitre is not known presented with a collar-like goitre which on palpation was diffusely nodular. Investigations showed high TSH and 'low' thyroxine serum levels. She was neither mentally retarded nor spastic. The goitre was reduced in size with supplementary l-thyroxine sodium but on withdrawal of therapy the gland size increased. An inborn error of thyroxine synthesis is the most likely cause of the condition. In our environment, the first line of treatment should not be surgery but rather a thoughtful approach to the causes of hypothyroidism.


Subject(s)
Goiter, Nodular/congenital , Hypothyroidism/etiology , Child , Female , Goiter, Nodular/complications , Goiter, Nodular/diagnosis , Goiter, Nodular/drug therapy , Humans , Hypothyroidism/diagnosis , Hypothyroidism/drug therapy , Nigeria , Thyroxine/therapeutic use
4.
J Reprod Med ; 24(1): 39-42, 1980 Jan.
Article in English | MEDLINE | ID: mdl-6987398

ABSTRACT

The sonographic diagnosis of a fetal goiter, confirmed at delivery, is described in a fetus exposed to large doses of propylthiouracil, which was administered to the mother. The pregnancy was also complicated by recalcitrant premature labor secondary to polyhydramnios. The intraamniotic instillation of thyroxine decreased the size of the fetal goiter, and numerous therapeutic amniocenteses permitted continuation of the pregnancy, so a mature infant with a goiter but no airway obstruction was delivered. Amniotic fluid reverse-T3 assays confirmed fetal utilization of the thyroxine. Fetal thyroid physiology is discussed briefly along with the benefits of the antenatal sonographic diagnosis of fetal goiter.


Subject(s)
Fetal Diseases/chemically induced , Goiter, Nodular/congenital , Propylthiouracil/adverse effects , Adult , Female , Goiter/complications , Humans , Lung/embryology , Maternal-Fetal Exchange , Polyhydramnios/etiology , Pregnancy , Thyroxine/therapeutic use
5.
Phlebologie ; 31(3): 279-85, 1978.
Article in French | MEDLINE | ID: mdl-581616

ABSTRACT

The authors draw attention to the fact that the possible effects of drugs containing iodine are often neglected during pregnancy. As an example, they report the following observation : "A young woman with benign asthma, treated for 14 years Asthmasedine and Asthmaligne, gave birth, on the 36th week of pregnancy, to a child apparenty dead but who was able to be reanimated. The child showed two types of signs : respiratory distress due to higher neurological disorders and a multinodular, non-compressing goiter. These two complications were caused by a congenital hypothyroidism corroborated by laboratory tests and due to the prolonged absorption of iodinated drugs by the mother". In conclusion, in cases of women receiving during pregnancy high doses of drugs containing iodine (250 such drugs are recorded in the Vidal), it is desirable to control the effect on the fetus and to propose an intra-amniotic therapy with L-Thyroxine, thus allowing a cerebral development close to normal.


Subject(s)
Congenital Hypothyroidism , Iodine/adverse effects , Maternal-Fetal Exchange , Potassium Iodide/adverse effects , Pregnancy Complications/drug therapy , Respiratory Distress Syndrome, Newborn/etiology , Adult , Asthma/drug therapy , Female , Goiter, Nodular/chemically induced , Goiter, Nodular/congenital , Humans , Hypothyroidism/chemically induced , Infant, Newborn , Iodine/metabolism , Potassium Iodide/therapeutic use , Pregnancy
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