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Beckwith-Wiedemann syndrome is characterised by variable clinical combinations of exomphalos, macroglossia, gigantism, hypoglycemia and an increased incidence of tumors. This article briefly describes its clinical symptomatology. Recently, hemangiomatous lesions in tongues have been determined.
The childhood is one of the most propitious period of the life to the occurrence of infection by yeasts of the genus Candida. In children with Down's syndrome, besides the predispose factors to bucal candidiasis; macroglossia, bucal muscular incompetence, frequent respiratory diseases, motor difficulty and immunologic deficit are mentioned as additional elements for this fungus disease. It was verified that the children attacked by this syndrome have much more strains of Candida than other children. The aim of this study was to detect the prevalence of phospholipase producer, Candida on the saliva of children with Down's syndrome. Candida albicans was the only identified specie of Candida. The phospholipase production was found in isolated strains from both of study and control. However, the isolated strains of the group of children with Down's syndrome have strongly present phospholipidolitic.
The clinical syndrome associated with triploidy is quite typical but is rarely reported in near-term stillborns and newborns. The occurrence of a large placenta with areas of hydatidiform changes in combination with an edematous fetus with macroglossia, facial clefts, eye defects, dysplastic cranial bones, omphalocele, meningomyelocele, syndactyly, and, in males, genital maldevelopment is suggestive of a triploid chromosomal constitution.
Young-Simpson syndrome (YSS) is a rare malformation syndrome characterized peculiar facies, congenital hypothyroidism, congenital heart disease, and postnatal growth deficiency. A 3-year-old boy with YSS underwent tracheostomy for respiratory failure under general anesthesia using sevoflurane, nitrous oxide and oxygen. Although he was assumed to be difficult for intubation due to micrognathia and macroglossia, tracheal intubation was done without difficulty. No complications were observed during the 40 minutes of the operation.
Dental anomalies and mixed-type hearing loss are extremely rare symptoms of Larsen's syndrome that is characterized by multiple joint dislocation and flat face. A 15-year-old Turkish girl affected with Larsen's syndrome exhibiting many characteristic facial and skeletal features plus hitherto unreported oral and oral-facial anomalies including, maxillary prognathi, malocclusion, supernumerary teeth, macroglossia and microdontia is reported.
Robinow's syndrome involves fetal facial features, short stature, brachymelia, hypoplastic genitals and a normal karyotype. A 10-year-old boy with Robinow's syndrome was scheduled for study of chronic stridor by fiberoptic bronchoscopy. Airway exploration with the patient awake revealed hipertelorism, retromicrognathia, poor dental alignment, macroglossia and class IV Mallampati. After anesthetic induction in spontaneous ventilation with 5% sevoflurane, grade IV Cormack-Lehane conditions were observed. A laryngeal mask was placed without muscle relaxation after which the boy was ventilated manually for several minutes without stridor. Anesthetic maintenance was with 3% sevoflurane in 50% oxygen and air. After recovery of spontaneous ventilation, marked stridor presented along with a decrease in oxygen saturation and expired fractions of sevoflurane and CO2. Pulse oxymetry did not increase with increased FiO2. However, when continuous positive airway pressure (CPAP) was set al 10 cm H2O, pulse oxymetry did increase; likewise, expired and inspired sevoflurane concentrations became equal, and expired CO2 increased. Fiberoptic bronchoscopy revealed an area of intrathoracic tracheomalacia, which collapsed partially during spontaneous expiration and collapsed less when CPAP was started. We discuss the relation between the facial dysmorphia characteristic of this syndrome and the possibility of finding a difficult airway, as well as the diagnosis and treatment of intrathoracic tracheomalacia during anesthesia.
Beckwith-Wiedemann Syndrome (BWS), also known as the EMG (Exomphalos, Macroglossia, Gigantism) syndrome was recognised independently by Beckwith in 1963 and Wiedemann in 1964 and is now a well established entity having been reported in more than two hundred individuals. It constitutes a wide spectrum of clinicopathologic entity with varied combinations of congenital and time dependent abnormalities that often make diagnosis and management tasking. There is paucity of report in the literature on this entity from the developing world. We present a case recently seen at the University College Hospital (UCH) Ibadan, Nigeria in order to create further awareness and highlight peculiarity of management as may be applicable in a setting as ours.
In this retrospective investigation, 1000 cases of congenital hypothyroidism followed-up in the Pediatric Endocrinology Unit at Hacettepe University Children's Hospital between 1964-1989 were evaluated with respect to age at diagnosis, main complaints, symptoms and physical findings. The mean age at diagnosis was 49.22 months, with 55.4 percent of patients diagnosed after two years of age and only 3.1 percent during the neonatal period. The main complaints of the patients were growth failure (26.7%), inability to speak (21.4%), and inability to walk (18.1%). The physical signs and symptoms most commonly detected by the physician were hypotonia (72%), constipation (66.8%), cretinoid face (64.6%), and macroglossia (64.6%). These results emphasize the necessity for routine neonatal screening programs to be established in Turkey, with the aim of detecting congenital hypothyroidism.
Ten out of the twenty-five lepromatous leprosy patients studied showed clinical evidence of involvement of the tongue, and they presented with various symptoms like loss of taste, stiffness of tongue, bleeding, pain etc. Various types of lesions ranging from small nodule to granuloma formation, ulceration, macroglossia and fissured cracked tongue were noted. The tongue lesions were found to be related to the severity of leprosy.
A series of 69 cases of systemic amyloidosis is discussed (12 primaries; 7 due to myeloma; 44 reactive; 5 due to familiar mediterranean fever and 1 portuguese familiar polyneuropathy) in which their clinical aspects, topographical distribution of the deposit and histochemical characteristics are studied using the potassium permanganate technique. According to sings and symptoms of presentation and topography there is a remarkable overlapping in the five types of amyloidosis. Only macroglossia was more frequent in primary amyloidosis (p less than 0.001). However the potassium permanganate technique can help in the classification. Considering the first clinical diagnosis. 83% of primary amyloidosis and 100% of amyloidosis due to myeloma, were resistant to permanganate. 84% of reactive amyloidosis and 100% of familiar mediterranean fever, were sensitive. The only case of portuguese familiar polyneuropathy showed resistance.
This report deals with an unusual case of primary macroglobulinemia with hypercalcemia, chronic renal failure and systemic amyloidosis. In May 1990, a 63-year-old male was transferred to our hospital because of hypercalcemia (13.5 mg/dl) and renal failure. Clinical examinations showed anemia, macroglossia, lymph node swellings and hepatomegaly. Laboratory findings included Bence-Jones (kappa type) proteinuria (0.8 g/day), a monoclonal gammopathy of the IgM-kappa type (2.8 g/dl), a proliferation of lymphoid cells in the peripheral blood (5%) and the bone marrow (59.6%), and lymphomatous involvement of an inguinal lymph node. Serum creatinine concentration was 8.5 mg/dl. The serum levels of parathormone and vitamin D3 metabolites were normal. The roentgenogram of bones showed a compression fracture of the lumbar spine and systemic osteoporosis. The treatment included eel calcitonin, prednisolone and the CHOP regimen, followed by hemodialysis and plasmapheresis. The serum level of IgM increased to 4.6 g/dl. The patient died three months later and postmortem examination demonstrated marked systemic amyloidosis.
The development of the tongue begins as known, in the floor of the primitive oral cavity, when the human embryo is four weeks old. More specifically, the tongue develops from the region of the first three or four branchial arches during the period that the external face develops. Malformations of the tongue, are structural defects, present at birth and happening during embryogenesis. The most common malformations are: 1. Aglossia 2. Microglossia, which is always combined with other defects and syndromes, like Moëbius syndrome 3. Macroglossia, which is commonly associated with cretinism, Down's syndrome, Hunter's syndrome, Sanfilippo syndrome and other types of mental retardation 4. Accessory tongue 5. Long tongue 6. Cleft or Bifid tongue, condition very usual in patients with the orodigitofacial syndrome 7. Glossitis Rhombica Mediana, a developmental malformation? 8. Lingual thyroid. Malformations are extensively analysed and discussed.
A 67-year-old man was hospitalized with a diagnosis of nephrotic syndrome. Physical findings at admission were generalized edema and macroglossia. Urinalysis showed massive proteinuria, + +occult blood, and granular and broad casts. Ig A lambda monoclonal gammopathy was noted in the serum. There was no evidence of myeloma in the bone marrow aspirate, scintigram or X-ray of the bone. A biopsy specimen of the kidney showed massive deposits of structureless material in the glomeruli. Marked cell infiltration was also observed in the interstitium. Multinucleated giant cells were occasionally seen in the Bowman's capsules and the interstitium. There were reactive changes in the Bowman's capsule adjacent to the giant cell. The deposits were proved to be amyloid by positive staining with Congo red and apple-green birefringence by polarized light. In addition, microfibrills seen on electron microscopy displayed deposits. Amyloid depositions were observed in other tissues such as gingiva, skin and tongue. Staining of amyloid with Congo red was resistant to potassium permanganate, and amyloid was positively stained with lambda-light chain of immunoglobulin. These findings indicated that the patient had primary amyloidosis. Infiltration of the multinucleated giant cell has been reported only in patients with familial amyloidosis and secondary amyloidosis associated with rheumatoid arthritis. To our knowledge the present case is a first report of the giant cell infiltration in a Bowman's capsule in primary amyloidosis.
Forty-eight children with primary congenital hypothyroidism, who attended Chiang Mai University Hospital, during 1977-2000, were reviewed. The female to male ratio was 2:1. The age at diagnosis ranged from 1 month to 12 years 4 months, with 27% of the cases diagnosed within the first three months of life, 37.5% within the first year, and 62.5% after one year of age. Constipation, delayed development and growth, feeding problems, prolonged neonatal jaundice and goiter were more common. Prolonged neonatal jaundice was found in every case diagnosed within the first three months. The other common signs were dry or mottled skin, abdominal distension, macroglossia, short stature, puffy face and umbilical hernia. Kocher-Debré-Semelaigne syndrome comprised 18.7% of cases with a 2:1 female to male ratio, and it was found in various forms of hypothyroidism. Thyroid scintigrams were done in 47 patients. Thyroid dysgenesis was the most common etiology (80.9%), which consisted of 40.4% athyreosis, 4.3% hypoplasia, and 36.2% thyroid ectopy. Thyroid dyshormonogenesis accounted for 18.9%, in which only 4 of 9 presented with goiter. Two-thirds of these patients showed a positive result to the perchlorate discharge test, indicating an organification defect. A 11 patients had elevated serum TSH level greater than 50 mU/L. The serum T4 level below 2 microg/dL was observed in 17 of 19 patients with athyreosis, 11 of 1 7 with thyroid ectopy, and 6 of 9 with thyroid dyshormonogenesis. These findings including retarded bone age were unable to differentiate among different groups of hypothyroidism.
Amyloidosis is the term for specific pathological peptide deposits in various tissues. Amyloid substances may be the manifestation of the following nosological units: AL-amyloidosis, AA-amyloidosis, ATTR-amyloidosis, beta2-microglobulin amyloidosis and possibly othr familiar forms of amyloidosis. The most frequent symptoms of amyloidosis are: 1. proteinuria with nephrotic syndrome, 2. cardiac failure with restrictive cardiomyopathy, 3. unexplicable hepatomegaly, 4. idiopathic peripheral polyneuropathy, 5. haemorrhagic manifestations and symptoms of increased fragility of the capillaries while the number of thrombocytes is normal, 6. periorbital haematomas and 7. macroglossia. Diagnostic and therapeutic procedures differ according to the type of amyloidosis and are analyzed in detail in the text.
The authors report 19 cases of non iatrogenic primary hypothyroidism in adults at Le Dantec Hospital of Dakar. Those cases had been found during a period of 6 years and half in the internal medicine service. The aim was to study clinical features, diagnosis and outcome of patients after treatment. The mean age of patients was 42.2 years with a sex-ratio of 0.33 M/F. The diagnosis delay was around 6,1 years. All patients presented clinical signs of hypometabolism: physical asthenia (63.15%), frilosity (26.3%), bradycardia (47.3%), constipation (36.8%). The cutaneomucal syndrom was composed by myxoedema (73.6%), macroglossia (26.3%), raucousness of voice (26.3%), alopecia (57.9%). Muscle weakness was found in 2 cases and genital troubles in 3 cases. Five patients presented goiter and 9 others had spontaneous thyroid atrophy. All patients presented a high level of TSH associated with decreased level of T4. Anemia was found in 7 cases and hypercholesterolemia in 13 cases. Treatment was based on substitutive hormonotherapy with L-Thyroxin (75 to 250 microg/day). Evolution was favorable after 10 month mean duration of processing. More alertness is necessary on behalf of the practitioners in front of any sign suggesting hypometabolism to reduce the diagnostic delay and prevent complete form of hypothyroidism that might be complicated, by cardiac involvement in particular.
In this paper we report a review of the omphalic pathology that was admitted to our hospital from january 1973 through december 1990. Eleven cases of Beckwith-Wiedemann Syndrome were diagnosed during this period of time. Our eleven cases comply with at least three of the four major criteria (omphalocele, macroglossia, gigantism and neonatal hypoglycemia) and several of the minor criteria. The interest of this paper is based on the rareness of this syndrome and its association in two of our cases with Cacchi-Ricci Syndrome. Moreover, one of these cases later presented with a Wilms' tumor. Finally, we emphasize the importance of an early diagnosis of this syndrome in order to avoid the metabolic disturbances (hypoglycemia), to establish prompt treatment of the serious anomalies (omphalocele) and to control and follow these patients since they have increased risk to develop neoplastic disease.
The case of a 37-year-old woman with lipoid proteinosis is presented. The first symptoms of hoarseness of voice occurred in puberty. Additional symptoms included beaded eyelid papules, macroglossia with yellowish papules, yellowish deposits of soft palate, popular eruption in the axillary area and tuberous nodules on the elbows.