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PubMedDate not supplied

[Clinical characteristics of primary hypothyroidism in Dakar. Apropos of 37 cases].

Primary hypothyroidism, other than cases of endemic goiter, has rarely been described in Africa. We conducted a retrospective study of the patients admitted to our hospital unit between 1985 and 1996. The inclusion criteria were clinical signs of hypothyroidism and low levels of thyroid-stimulating hormone. We investigated socio-demographic, clinical (hypometabolic syndrome, cutaneomucal syndrome, muscular syndrome) and etiological (spontaneous thyroid atrophy, thyroidectomy, multinodular goiter) factors. Overall, our study population contained 37 cases, 8 men and 29 women. The mean age of the men was 40.8 +/- 19.2 years and that of the women was 41.5 +/- 14.5 years. Eighteen patients (about 50%) lived in the suburbs, 25% of patients were from urban areas and 25% from rural areas. The associated clinical signs were: 1) hypometabolism: constipation (51% of cases), bradycardia (45%), physical asthenia (40%), sleeping during the day (32%), frilosity (35%); 2) cutaneomucal syndrome: hoarseness (48%), alopecia (32%), facial puffiness (27%), macroglossia (24%), hypoacousia (21%), weight gain (18%), dry skin (16%), pallor (2%); 3) muscular syndrome was rare: myalgia (4 cases), muscle weakness (2 cases). Mean total cholesterol concentration was 2.54 +/- 0.75 g/l; mean total T3 was 1.027 +/- 0.84 nmol/l; mean total T4 was 16.70 +/- 16.89 nmol/l; mean TSH concentration, measured by radiometry, was 63.74 +/- 51.01 mIU/l. The etiology was goiter in 13 cases, thyroidectomy (11 cases) and spontaneous thyroid atrophy (13 cases). Thus, primary hypothyroidism does occur in African hospitals, particularly in Senegal. This disease, which has traditionally been reported in public health studies of endemic goiter, also occurs in cosmopolitan African environments.

Adolescent↗
PubMed1997

Identifying Ultrasound Markers for Down Syndrome.

Although the incidence of Down syndrome increases with advancing maternal age, the use of maternal age alone as a screening tool results in the identification of only about one third of the cases of fetal Down syndrome. Screening tools for Down syndrome (trisomy 21) have become more sensitive and specific during the last few years. The use of biochemical markers for the screening of patients with fetuses having chromosomal anomalies has become more widespread in the obstetric community. The triple-screen test uses maternal age plus serum alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin levels to calculate a risk for fetal Down syndrome. Because as many as 11% to 35% of fetuses with chromosomal defects have anatomical characteristics that can be visualized on a detailed ultrasound evaluation, researchers are studying the usefulness of this imaging technique as a screening tool for Down syndrome. Ultrasound findings associated with trisomy 21 may be divided into 2 groups. The first group comprises the common major malformations associated with Down syndrome, such as duodenal atresia and cardiac disease. The second group comprises the ultrasound screening indicators, that is, anatomical malformations highly specific to Down syndrome. This group includes brachycephaly, mild ventriculomegaly, macroglossia, abnormal facies, nuchal edema, echogenic or hyperechoic bowel, pyelectasis, and shortening of the limbs. Although the diagnosis of chromosomal anomalies remains dependent on karyotyping, the use of ultrasound may limit the number of invasive procedures and allow for more accurate genetic counseling of the mother at risk for delivering an infant with Down syndrome.

Journal Article↗
PubMed1998

Upper airway imaging in sleep apnoea syndrome: clinical applications.

Symptoms of habitual snoring and excessive daytime sleepiness are extremely common in the general population, and have poor predictive value in identifying patients with "true" sleep-related disordered breathing. The upper airways are the main anatomical site responsible for snoring and sleep apnoea; therefore, their examination via different means has been quite extensively assessed. Clinical examination may point to severe micrognathia or retrognathia, grossly hypertrophied tonsils, obvious macroglossia, and oedema and inflammation of the uvula and soft palate. A recently proposed model is promising, but has not been validated independently yet. Endoscopic investigations have been performed in awake as well as in sleeping patients, with the pharynx in relaxed or active states; their predictive value remains poor, both for diagnostic purposes and for identifying patients that may benefit from surgery. Radiographic and magnetic resonance imaging techniques have permitted a detailed understanding of the process of narrowing and collapse of the upper airways. Unfortunately, these techniques do not perform any better than the ones previously cited as clinically efficient tools for diagnosis in the population of patients suspected of sleep-related breathing disorders. In conclusion, clinical examination of the upper airways remains part of the clinical evaluation of patients suspected of sleep-related disordered breathing. Other imaging techniques may be used for research purposes, but do not yet seem to be worth including in the routine assessment of this population.

Airway Obstruction↗
PubMed1981

Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family.

We report four additional cases of Wiedemann-Beckwith syndrome (WBS): A mother, her brother, and two of her children (half-sibs). Theories of the genetic transmission of the WBS are reviewed. The trait in this family appears to be an autosomal-dominant with variable expressivity. A theory of delayed mutation of an unstable premutated gene is discussed and an interpretation and observations are offered which could alter slightly the expected pattern of inheritance. Eighty-eight other family members were screened for evidence of WBS and noteworthy findings are presented.

Adult↗
PubMedDate not supplied

Congenital facial hemihypertrophy: report of a case with airway compromise.

Facial hemihypertrophy, first described by Beck in 1836, aroused some interest in the early part of this century among European and American clinicians. However, a search of the otolaryngologic literature failed to reveal hemihypertrophy of the head and neck area as a well-recognized entity. We recently encountered a case of hemifacial hypertrophy in a 2-year-old. The child presented with airway compromise and swallowing difficulty. The treatment of this child and a review of associated head and neck findings are discussed.

Airway Obstruction↗
PubMed1993

Screening of children with hemihypertrophy, aniridia, and Beckwith-Wiedemann syndrome in patients with Wilms tumor: a report from the National Wilms Tumor Study.

To evaluate the usefulness of regular radiographic screening to detect an asymptomatic intraabdominal tumor in patients with an increased risk of developing Wilms tumor, we reviewed the files of patients with hemihypertrophy, aniridia, or Beckwith-Wiedemann syndrome who were registered on the National Wilms Tumor Studies. Screening was employed infrequently in the management of children with hemihypertrophy, with only 25% (6/24) of those whose hemihypertrophy was identified more than 30 days prior to the diagnosis of Wilms tumor undergoing such examinations. Most patients with aniridia were evaluated regularly for the occurrence of Wilms tumor. There were more stage 1 tumors identified in patients whose tumor was detected only through radiographic evaluation. The role of routine radiographic screening needs to be carefully evaluated in a homogeneous group of patients such as those with aniridia using a prospective study design to determine if such screening improves the survival rate of children with this rapidly growing, but readily treatable form of childhood cancer.

Adolescent↗
PubMed1991

Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome.

A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.

Adult↗
PubMed1981

A variant of the Wiedemann-Beckwith syndrome.

The following combination of findings were established by histological examination of biopsy or autopsy material in an 11-day-old male baby: congenital mesoblastic nephroma, nodular renal blastema, dysgenetic pancreatic cyst, "cytomegaly" of the adrenal cortex, hyperplasia and hypertrophy of the islets of Langerhans, hypoplasia of the thymus and the lymphatic tissue. Since some of these changes constitute the characteristic histological findings in the Wiedemann-Beckwith syndrome and the remainder can be readily reconciled with it, the assignment of this case to this syndrome is discussed. Although the three cardinal symptoms are lacking, the combination of findings are interpreted as a variant of the wiedemann-Beckwith syndrome.

Adrenal Glands↗
PubMed1985

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism.

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.

Beckwith-Wiedemann Syndrome↗
PubMed1985

Plastic and aesthetic surgery on children with Down's syndrome.

Since 1978, 300 children with Down's syndrome have received plastic- and aesthetic-surgical corrections of the face--to the tongue, nose, and less frequently, ears and chin--so that they will be less conspicuous. The parents' satisfaction in 95% of the cases indicates that the children's situation has been improved by the operations. The children are less stigmatized and their social integration became easier.

Adolescent↗
PubMed2004

[82-year old patient with hyperostosis frontalis, prognathism, makroglossia and cutis gyrata. Acromegaly].

We present a 82 year old female patient with typical acral enlargement. There were no signs of visceromegaly. Magnetic resonance imaging of the pituitary region showed a macroadenoma. Oral glucose tolerance test revealed missing suppression of the Human Growth Hormone (HGH), which could be achieved with a long acting somatostatin analog. A HGH suppressive therapy with a long acting dopamine agonist (Cabergolin) was induced. The patient died one year later following cardiovascular complications.

Acromegaly↗
PubMed1980

Sleep apnea in acromegaly.

In patients with acromegaly obstruction of the upper airway may develop due to enlargement of the tongue and thickening of the tissues of the larynx. The sleep apnea syndrome may develop in patients with upper airway obstruction from other causes. We studied a somnolent patient with acromegaly in whom we documented the sleep apnea syndrome. Endoscopy, while the patient was sleeping, revealed that periodic obstruction during sleep occurred because the large tongue bulged into the pharynx and obliterated the pharyngeal airway. Tracheostomy was followed by the disappearance of the somnolence. The upper airway obstruction in acromegaly may result in severe hypoxemia and disruption of normal sleep.

Acromegaly↗
PubMed1985

A morphometric study of normal and abnormal fetal to childhood tongue size.

The weight, length, width and thickness of 83 normal tongues from patients aged 25 weeks of gestation to 10.5 years were compared statistically with several measures of body and head size and changes described by linear regression; the relationships between measures were examined by partial and least-squares correlation. Sex differences in tongue size were not evident. The tongue doubles in length, width and thickness between birth and adolescence and grows considerably beyond this period. That the major dimensions of the tongue correlated more with head size than body size implies that local factors affect lingual growth more than generalized somatic ones. The weights of 45 tongues thought to be abnormal in size were compared with those of controls. The volume of normal and abnormal tongues was identical to weight, indicating that density remains constant in a variety of conditions. The tongue was abnormally small in hypoglossia hypodactylia and in cleft lip and palate. Tongue weights were within 1 SD of control means in DiGeorge syndrome or oligohydramnios. The tongue was significantly enlarged when protuberant or in anencephaly, CHARGE association and Crouzon syndrome. Anasarca produced a variable degree of enlargement. Concomitant aberrations in the size of the tongue and mandible occurred frequently, but small tongues were not always associated with small mandibles and large tongues were not always observed with large mandibles. Thus, the association of lingual and craniofacial anomalies seems to develop from a number of diverse factors, in addition to biomechanical ones.

Anthropometry↗