scholarly journals Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Soraia Tahan ◽  
Adriana Aparecida Siviero-Miachon ◽  
Maria de Fatima de Faria Soares ◽  
Elaine Cristina Soares Martins-Moura ◽  
Fabio Luis Peterlini ◽  
...  

Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of congenital hypothyroidism in a one-year-old child mimicking Hirschsprung disease is described. Adequate treatment with levothyroxine sodium tablets controlled intestinal dysmotility that mimicked congenital intestinal aganglionosis due to the critical influence of thyroid hormones on bowel motility.

2020 ◽  
Vol 33 (11) ◽  
pp. 1449-1455
Author(s):  
Suzana Nesi-França ◽  
Rodrigo B. Silveira ◽  
Juliana Cristina R. Rojas Ramos ◽  
Adriane A. Cardoso-Demartini ◽  
Monica N. Lima Cat ◽  
...  

AbstractObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.


Author(s):  
Katia Perri ◽  
Letizia De Mori ◽  
Domenico Tortora ◽  
Maria Grazia Calevo ◽  
Anna E M Allegri ◽  
...  

Abstract Context Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment. Objectives To evaluate neurocognitive function and white matter microstructure in children with permanent or transient CH and to correlate these findings with disease severity. Design, participants and methods A retrospective and prospective observational study was conducted in 39 children with permanent or transient CH, and in 39 healthy children. Cognitive function was assessed by Wechsler Intelligence Scale (WISC-IV) and by other tests; the white matter microstructure was investigated by 3 Tesla magnetic resonance (MRI). Results Children with permanent CH have lower cognitive scores at a median age of 9.5 years than those with transient CH and controls. An IQ score between 71-84 was found in 28.6% of permanent CH and of &lt;70 (p=0.06) in 10.7%. The Processing Speed Index (PSI, p=0.004), sustained visual attention (p=0.02), reading speed (p=0.0001), written calculations (p=0.002) and numerical knowledge (p=0.0001) were significantly lower than controls. Children born to mothers with Hashimoto’s thyroiditis have significantly lower IQ values (p=0.02), Working Memory Index (p=0.03) and PSI (p=0.02). Significantly lower IQ and Verbal Comprehension Index values were found in children with a family history of thyroid disorders (p=0.004; p=0.009), respectively. In children with permanent CH, significant correlations between abnormalities in white matter microstructural, clinical and cognitive measures were documented. Conclusions These findings indicate that children with CH are at risk of neurocognitive impairment and white matter abnormalities despite timely and adequate treatment. The association between offspring cognitive vulnerability and maternal thyroid disorders requires careful consideration.


2003 ◽  
pp. 1-6 ◽  
Author(s):  
M Wasniewska ◽  
F De Luca ◽  
A Cassio ◽  
N Oggiaro ◽  
P Gianino ◽  
...  

OBJECTIVE: To evaluate in a cohort of infants with congenital hypothyroidism (CH): (a) the frequency of bone maturation (BM) retardation at birth and (b) whether BM delay at birth may be considered as a tool to make a prognosis of psychomotor status at the age of 1 Year, irrespective of other variables related to treatment. DESIGN: BM at birth, CH severity and developmental quotient (DQ) at the age of 1 Year were retrospectively evaluated in 192 CH infants selected by the following inclusion criteria: (a) gestation age ranging between 38 and 42 weeks; (b) onset of therapy within the first Month of life; (c) initial thyroxine (l-T(4)) dosage ranging from 10 to 12 microg/kg/day; (d) normalization of serum thyrotropin (TSH) levels before the age of 3 Months; (e) Monthly adjustments of l-T(4) dose during the first Year of life with serum TSH levels ranging from 0.5 to 4 mIU/l; (f) no major diseases and/or physical handicaps associated with CH; (g) availability of both thyroid scanning and knee X-rays at the time of treatment initiation; (h) availability of DQ assessment at an average age of 12 Months. METHODS: BM was considered normal if the distal femur bony nucleus diameter exceeded 3 mm (group A) or retarded if either this nucleus was absent (subgroup B1) or its diameter was <3 mm (subgroup B2). DQ was evaluated with the Brunet-Lezine test. RESULTS: In 44.3% of cases BM was either delayed (23.5%) or severely delayed (20.8%). The risk of BM retardation was higher in the patients with athyreosis than in the remaining patients (41/57 vs 44/135, chi(2)=25.13, P<0.005). BM-retarded infants showed a more severe biochemical picture of CH at birth and a lower DQ at the age of one Year compared with the group A patients. If compared with infants of subgroup B2 those of subgroup B1 exhibited significantly lower T(4) levels at birth and a more frequent association with athyreosis (70.0 vs 30.0%; chi(2)=7.49, P<0.01), whereas DQ was superimposable in both subgroups. CONCLUSIONS: (a) BM at birth is delayed in almost half of CH patients and (b) CH severity per se can affect DQ at the age of 1 Year irrespective of other variables related to therapy.


2018 ◽  
Vol 46 ◽  
pp. 5
Author(s):  
Luís Eduardo Carneiro ◽  
Ana Carolina Vanz ◽  
Heloísa Helena de Alcantara Barcellos

Background: hypothyroidism is a disease of clinical importance that causes multisystem disorders, which can be confused with other endocrinopathies. Rapid and accurate diagnosis is necessary in order to avoid worsening of the clinical manifestation. The use of drugs in a wrong way can directly imply the difficulty of the diagnostic approach, since they may causechanges in the biochemical profiles, which are of great importance as markers in diseases of animals with low thyroid function.Case: The case reports a German Spitz male, one year old and six months old, neutered, who presented bilateral do not cause itching alopecia, being treated by another professional for endocrine and fungal affections. In this same medical appointment were neglected biochemical and hematological profile exams. The exams that had been performed were skin scrapings,which showed growth of fungi and bacteria, besides the measurement of thyroid hormones as TSH, T4L (T4 free) e T3, and also the low-dose dexamethasone suppression test. Based on the findings the therapy instituted by such professional was the administration of itraconazole (ITL®), levothyroxine sodium (compounded drugs) and trilostane (compounded drugs). With absence of clinical improvement, the guardian came to the hospital veterinary, in search of a second diagnostic opinion, where during the collection of information at the time of the anamnesis the patient presented lethargy, drowsiness and absence of hair on both sides. During the clinical examination, the animal presented mild bradycardia and a slightly diminished rectal temperature; in the dermatological evaluation the presence of pup pelt, cutaneous hyperpigmentation and hair thinning in the abdominal area were noted. From this evaluation, hematological exams were requested, which had altered the presence of lymphocytosis, and biochemical tests, where changes in the cholesterol and triglyceride levels were expected, but they were within the normal range. Hormone measurement showed decreased TSH and T4L levels within the reference range. Thyroid ultrasonography demonstrated a hypoplastic gland, while the assessment of abdominal organs were preserved. Based on this, the new therapy instituted was the increase of levothyroxine sodium (Puran®) dose with the withdrawal of other drugs that were being administered to the patient. Over the course of five months, the tutor returned because of lack of improvement in the condition, where he returned to present symptoms such as drowsiness, apathy and indisposition. Thus, a new battery of tests was requested, where the biochemical and hormonal parameters were within the normal range. Due to TSH being within normal, it was decided to change the medication for another version of human levothyroxine sodium (Synthroid®), which has been presenting satisfactory results so far.Discussion: In cases of patients, even when young, when they present bilateral symmetrical alopecia, complementary exams such as scraping of the skin and hair, trichrome and fungal culture, together with hemogram and biochemical profile, are necessary for discarding of endocrinopathies other than hypothyroidism. Treatments instituted with drugs such as trilostan cause changes in laboratory tests, which may make diagnosis difficult. Treatment with levothyroxine sodium expected in patients with hypothyroidism, and serum TSH and T4L levels should be monitored for evaluation of treatment efficacy. The present study demonstrated that the inadequate treatment made diagnosis difficult due to hematological andbiochemical alterations.Keywords: alopecia, dog, endocrine dermatopathy, hypothyroidism, levothyroxine, trilostane.


2015 ◽  
Vol 21 (4) ◽  
pp. 212-216
Author(s):  
Frecus Corina ◽  
Balasa Adriana ◽  
Ungureanu Adina ◽  
Mihai Larisia ◽  
Cuzic Viviana ◽  
...  

Abstract Objectives: Establishing the frequency of pleurisy from the total number of admissions in the Paediatrics Department, as well as the frequency of pleurisy from the total number of respiratory ailments that required hospitalization; evaluating age group distribution and determining the influence of environmental factors; describing clinical manifestations, laboratory, radiologic, and bacteriological investigations in patients with pleurisy; quantifying clinical manifestations and investigations so as to establish an appropriate therapeutic approach; identifying clinical aspects that indicate a favourable/unfavourable evolution; analyzing the evolution of cases after treatment as revealed by radiologic imaging. Method: Retrospective study on 47 patients diagnosed with pleurisy and admitted in the Paediatrics Department of Constanta Clinical Emergency Hospital, over a span of 3 years (2011-2013), based on data collected from observation sheets. Results: A downward trend in what regards the frequency of pleurisy can be observed from 2011 to 2013. Rural provenience and other environmental factors continue to play an important role. Clinical manifestations tend to be more significant for younger patients and they are directly related to the specific pathogen identified during laboratory investigations. Conclusion: Following an early diagnosis and a subsequent adequate treatment, evolution tends to be favourable in most cases, although certain post-hospitalization measures still need to be implemented in order to ensure full recovery and restitution ad integrum.


PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 785-789
Author(s):  
D. A. FISHER ◽  
B. L. FOLEY

Mass population screening of newborn infants for congenital hypothyroidism was introduced in 1974 and now is a routine and effective means of early diagnosis of congenital hypothyroidism throughout most of the industrialized world. A large number of affected infants and children have been treated with replacement thyroid hormone, and several reports of IQ measurements and functional assessments of 5-to 7-year-old treated children now are available. These reports document normal mean IQ values, satisfactory school performance, and minimal motor dysfunction in treated children. However, there have been reported correlations between lower IQ values and biologic parameters of the hypothyroid state in the neonatal period among several reported studies, and it is not yet clear whether early adequate treatment will reverse all of the effects of congenital hypothyroidism.


1989 ◽  
Vol 10 (7) ◽  
pp. 207-223

Intestinal aganglionosis (Hirschsprung disease) has an incidence of one in 5,000 live births. It is being recognized with greater frequency during the neonatal period when it must be distinguished from other causes of intestinal obstruction. The diagnosis of Hirschsprung disease is most often considered in the infant or child with chronic constipation since birth. A history of delayed passage of meconium may be obtained, and the infant may have no spontaneous evacuation of feces without stimulation. Less commonly, intractable diarrhea secondary to enterocolitis may be the finding. Clinical features suggestive of Hirschsprung disease include increased anal sphincter tone and empty rectum despite the presence of fecal impaction.


1997 ◽  
Vol 11 (1) ◽  
pp. 67-72 ◽  
Author(s):  
Peter M. Graf ◽  
Hans Hallén

The aim of the study was to systematically follow-up 10 patients with rhinitis medicamentosa for at least 1 year after vasoconstrictor withdrawal. During withdrawal of the decongestants the patients used budesonide nasal spray, 400 μg/day, for 6 weeks. The thickness of the nasal mucosa, the decongestive effect of oxymetazoline, and the histamine sensitivity were measured with rhinostereometry during the period. The thickness of the nasal mucosa and the symptom scores of nasal stuffiness were reduced considerably 6 and 12 months after vasoconstrictor withdrawal. The histamine sensitivity reflecting nasal hyperreactivity was still increased after 6 months, but not after 1 year. The decongestive effect of oxymetazoline increased after 6 months, indicating reversible tolerance. We conclude that when given adequate treatment and information about nose-drop overuse, all patients were able to stop using the vasoconstrictors and no one relapsed into a daily long-term overuse of vasoconstrictors during the 1-year follow-up period.


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