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PubMed1998

[Glossitis granulomatosa--an unusual subtype of Melkersson-Rosenthal syndrome].

So-called "glossitis granulomatosa", described in 1952 by H. Schuermann as a peculiar manifestation of Melkersson-Rosenthal syndrome (MRS), is little known in oral medicine due to the paucity of cases published so far. During the past 25 years the author has observed eight definite cases of glossitis granulomatosa and confirmed its close connections with MRS. The recurrent inflammation tends to change into persisting macroglossia with considerable functional and sensory oral disturbances. The clinical diagnosis, histologically supported by biopsy, can definitely be established, yet the outcome of the mostly chronic macroglossitis (with danger of later tongue carcinoma) may be very doubtful. Knowledge of Schuermann's glossitis, a member of the group of etiologically unclarified lingual inflammations, is important for physicians involved in oral medicine because of its therapeutic and prognostic implications.

Adult↗
PubMedDate not supplied

Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.

Rhabdomyosarcoma (RMS) is a soft tissue tumor of childhood frequently diagnosed between the first and fifth year of life. Children with the Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth syndrome characterized by exomphalos, macroglossia, and macrosomia, have an increased risk of developing childhood tumors including Wilms tumor, hepatoblastoma, neuroblastoma, and RMS. Although an association between RMS and the BWS is well accepted, only four cases have been reported to date, and of these, three were reported as embryonal RMS. Based on these data, an association between BWS and embryonal RMS has been proposed. We report three additional cases of BWS with RMS and review the clinical data for each patient as well as the pathology of their tumors. All three cases of BWS had histology consistent with alveolar RMS and were diagnosed at 6 weeks and 5 and 13 years of age. In two of these BWS cases, constitutional defects of 11p15 imprinting were demonstrated. Furthermore, cytogenetic analysis of the tumors did not detect the t(2;13) or t(1;13) translocations that generate the PAX3- or PAX7-FKHR fusion proteins common to alveolar RMS. These observations suggest that the development of alveolar RMS tumors in BWS may occur without the chromosomal rearrangement producing the PAX-FKHR fusion protein. In summary, we present three new cases of RMS demonstrating a new association between BWS and an uncommon subtype of alveolar RMS. The absence of the translocations commonly associated with alveolar rhabdomyosarcoma suggests a common 11p15 pathway for alveolar RMS and BWS.

Adolescent↗
PubMedDate not supplied

Yolk sac tumor of the placenta in Wiedemann-Beckwith syndrome.

The present report describes an example of multifocal (two) yolk sac tumor (YST) with mesenchyme-like and enteroid patterns found in the placenta (730 g) of a newborn (4200 g) with Wiedemann-Beckwith syndrome (WBS) phenotype (macroglossia, omphalocele, hemihypertrophy, cardiomegaly, hypoglycemia). YST has not been previously reported to develop in the placenta. This case expands further the spectrum of alterations found in the placenta in the WBS and fits in the list of tumors related to WBS. ¿KW¿

Adult↗
PubMed1987

Respiratory muscle weakness and ventilatory failure in AL amyloidosis with muscular pseudohypertrophy.

Generalized muscle weakness culminating in ventilatory failure developed in a 59-year-old man with kappa light chain multiple myeloma. Physical examination demonstrated skeletal muscle enlargement, severe proximal muscle weakness, and macroglossia, consistent with amyloid-associated muscle pseudohypertrophy. Pulmonary function studies revealed a severe restrictive abnormality with a low maximal inspiratory pressure and maximal voluntary ventilation. Arterial blood gas values and chest radiographic results were normal. There was no clinical evidence of cardiac or central nervous system disease. At autopsy, skeletal muscles and diaphragm were diffusely infiltrated by amyloid. There was also multifocal deposition of amyloid in alveolar septae, esophagus, and subendocardium. This report suggests that ventilatory failure may occur as a complication of myeloma-associated (AL) amyloidosis involving the respiratory muscles.

Amyloidosis↗
PubMed1994

Swallowing problems in neuromuscular disorders.

Feeding problems in patients with neuromuscular diseases are frequently underestimated and poorly analyzed. To gain a better understanding of the most common complaints, we surveyed 451 patients and received 409 responses representing seven disorders. Difficulties in the pre-oral phase of swallowing were encountered primarily in Duchenne muscular dystrophy (DMD), limb-girdle muscular dystrophy (LGMD), facio-scapulo-humoral muscular dystrophy (FSHMD), and spinal muscular atrophy (SMA). A limitation in the ability to open the mouth was also noted in SMA. Some features are characteristic of certain diseases such as macroglossia in DMD and dryness of the mouth in dermatomyositis and polymyositis (DMPM) and myasthenia gravis (MG). Posterior swallowing time is especially affected in MG, dermatomyositis and polymyositis, LGMD, and SMA. Overall prevalence of feeding disability in five disorders (SMA, myotonic dystrophy [MD], DMPM, FSHMD, MG) was 34.9%. A better understanding of the swallowing problems associated with these disorders may help in choosing treatment possibilities, technical aids, adaptation of the consistency of foods, swallowing rehabilitation, and nutritional support by the non-oral route.

Adolescent↗
PubMed1978

Mandibulo-facial aspects of the cervical cystic lymphangioma (cystic hygroma).

Sixteen cases of cervical cystic lymphangioma are reported; all but two were present at birth. Intra-oral extensions were detected in five and three of these caused macroglossia resulting in partial respiratory obstruction. Mal-development of the jaws and consequent dental malocclusion is a possible complication of the condition. In planning the treatment of such patients, maxillo-facial surgeons and orthodontists should be consulted at an early stage. The treatment of choice is complete excision, but where vital structures are involved repeated sub-total excisions are advocated.

Child↗
PubMed1989

In utero prenatal diagnosis of Beckwith-Wiedemann syndrome; a case report.

The Beckwith-Wiedemann syndrome is an unusual complex of abnormalities that includes mainly omphalocele, macroglossia, natal and postnatal gigantism, visceromegaly and neonatal hypoglycemia. A case is presented where sonographic prenatal diagnosis of this rare condition was made. Prenatal findings and postnatal management are described.

Beckwith-Wiedemann Syndrome↗
PubMed1980

Dermoid cyst of the tongue: report of a case.

The case of a young patient with an intralingual dermoid cyst is presented. The peculiarities of this case are the large size of the cyst, leading to macroglossia, the patient's inability to close the mouth, and the resultant difficulty in speech and swallowing.

Adolescent↗
PubMed1994

Tongue, primary amyloidosis, and multiple myeloma.

A case of macroglossia and resulting apertognathia because of primary amyloidosis in a 65-year-old man with multiple myeloma is described. In addition, a retrospective study of the oral manifestations of primary amyloidosis and multiple myeloma in the last 15 years is reported.

Aged↗
PubMed1992

Ultrasonographically detectable markers of fetal chromosomal abnormalities.

Screening for fetal chromosomal abnormalities on the basis of maternal age has not resulted in a substantial fall in the proportion of infants born with an abnormal karyotype. Most fetuses with major chromosomal abnormalities have defects that can be recognised on detailed ultrasonographic examination. Therefore, provided the cardinal signs of each chromosomal syndrome are recognised, it is possible that screening by ultrasound examination could have a greater impact. We karyotyped 2086 fetuses after ultrasonographic examination had revealed fetal malformations, growth retardation, or both. Chromosomal abnormalities were detected in 301 (14%) cases and were more common among fetuses with multisystem malformations (29%) than among those with isolated defects (2%). The commonest chromosomal abnormality was trisomy 18, followed by trisomy 21, triploidy, Turner's syndrome, unbalanced chromosomal rearrangements, and trisomy 13. Trisomy 18 was associated with strawberry-shaped head, choroid plexus cysts, facial cleft, micrognathia, heart defects, exomphalos, malformations of hands and feet, and growth retardation. In trisomy 21, the associated defects were subtle and included nuchal oedema, macroglossia, atrioventricular septal defects, mild hydronephrosis, clinodactyly, and sandal gap. The frequency of autosomal abnormalities increased with maternal age, but if fetal karyotyping had been restricted to mothers older than 35 years, large proportions of chromosomally abnormal fetuses would not have been diagnosed prenatally (64-97%). Our findings provide guidelines as to which defects to search for in screening studies for the detection of chromosomal abnormalities.

Adolescent↗
PubMedDate not supplied

Pallister-Killian syndrome in older children and adolescents.

The Pallister-Killian syndrome is caused by a mosaic tetrasomy of the short arm of chromosome 12. Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this rare chromosomal aberration, clinical recognition is crucial for appropriate cytogenetic investigations. The phenotype of younger children has already been well documented. During childhood and adolescence, however, the phenotype changes markedly. The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.

Abnormalities, Multiple↗
PubMedDate not supplied

Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome.

The case of a 3-day-old infant with Beckwith-Wiedemann syndrome who required anesthetic care during closure of an abdominal wall defect is presented. Beckwith-Wiedemann syndrome comprises a constellation of clinical features, including macroglossia, macrosomia, omphalocele, visceromegaly, mild microcephaly, facial nevus flammeus, horizontal earlobe creases, and renal medullary dysplasia. Due to the high rate of omphalocele in this syndrome, anesthetic care is frequently required during the neonatal period. Many of these infants (greater than 50%) are born prematurely. Therefore, their anesthetic care may be further complicated by associated diseases of prematurity, such as hyaline membrane disease. Additional anesthetic implications of this syndrome relate to the occurrence and management of hypoglycemia and polycythemia. Careful intraoperative management of glucose homeostasis is particularly important, since eventual neurologic outcome and intelligence will be normal provided prolonged neonatal hypoglycemia is avoided. Preoperative evaluation of the cardiac and genitourinary system, including echocardiography and renal ultrasound, are recommended because of the frequent occurrence of associated anomalies with omphalocele.

Anesthesia, General↗
PubMed1994

Cognitive impairment in Duchenne muscular dystrophy.

Cognitive function and dystrophin gene mutations were investigated in 50 DMD patients (mean age 11.1 yr; range 3.5-20.3). General intelligence assessment showed 31% of patients with Wechsler full intelligence quotient (FIQ) lower than 75 (normal values: 100 +/- 14), and only 24% with appropriate FIQ level. Modal distribution of Wechsler verbal, performance, and FIQs, and Raven IQs was normal. Verbal IQ was more affected than performance IQ (PIQ) only in the younger group of subjects. Low PIQ correlated with the presence of macroglossia, detected in 13 out of 50 patients. Impairment of productive language was of non-dysphasic nature and correlated with defects of short-term memory, which was also affected in non-verbal skills. DMD patients shared the same spectrum of neuropsychological defects, regardless of whether they were or were not mentally retarded. The proportion of patients with dystrophin gene deletions was 64%. No statistically significant correlations were found between genetic data and psychometric assessment. Finally, (18F)-fluorodeoxyglucose positron emission tomography studies demonstrated cerebellar hypometabolism in all the DMD patients examined and variable involvement of associative cortical areas. These findings suggest a possible role of the cerebral and cerebellar hypometabolism in the cognitive impairment of DMD.

Adolescent↗
PubMedDate not supplied

Oral findings and health status among hospitalized patients with physical disabilities, aged 60 or above.

The purpose of the study was to determine oral health status and the prevalence of oral mucosal lesions among hospitalized elderly patients with physical disabilities. The study group consisted of 111 (43 male and 68 female) elderly patients with physical disabilities. Clinical examination and interview methods were employed. Clinical examination revealed that 45.9% of the elderly patients had one or more oral mucosal lesions. Xerostomia (58.6%), coated-hairy tongue (54.1%) and halitosis (46.8%) were the most frequently encountered oral findings and mucosal lesions. As the most interesting finding discovered in elderly patients, macroglossia (30.6%) seems to depend on physical disability. Coated or hairy tongue was commonly related to poor oral hygiene, with both crude odds ratio (OR) of 3.25 (95% CI: 1.26-8.36) (P=0.021) and the logistic regression OR of 3.36 (95% CI: 1.21-9.33) (P=0.020). Halitosis and bruxism were commonly related to dentate patients [logistic regression OR of 0.29 (95% CI: 1.12-0.74) (P=0.009) and 0.21 (95% CI: 0.06-0.74) (P=0.016); respectively]. Increase in dental problems may have negative impacts on chewing, nutrition, aesthetics and phonation in elderly patients. It is particularly noteworthy that physical disability in elderly patients limits their ability to effectively follow oral hygiene procedures.

Aged↗
PubMedDate not supplied

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia, dacrocystitis, persisting feeding difficulties, inguinal hernia and broad based gait. All were severely mentally retarded. Three patients had a specific behavioral phenotype with hyperactivity and motor restlessness, chaotic behavior, happy-personality but with periods of aggression and anxiety, sleeping problems and self-mutilation. (head-banging). Array CGH and fluorescence in situ hybridization (FISH) allowed us to delineate the deletion size and showed that the four patients share a 8.1 Mb minimal deleted region. Reviewing additional nine case reports of patients with similar deletions showed striking phenotypic similarities which enabled the delineation of the 2q32.2q33 syndrome. Deletion of 2q32 has been also associated with the wrinkly skin syndrome (WWS) and isolated cleft palate. Although the patients presented here shared many aspects of WWS, they did not had the wrinkly skin. All patients had a cleft or high palate, most likely as a result of hemizygosity for SATB2. A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes.

Abnormalities, Multiple↗
PubMed2006

Cerebral infarction in Hunter syndrome.

Hunter syndrome, or mucopolysaccharidosis type II, is an X-linked recessive disorder resulting from iduronate sulfatase deficiency. Typical manifestations include short stature, mental retardation, hydrocephalus, macroglossia and cardiac valvulopathy. We describe a 21-year-old patient who presented with acute ischemic stroke and evidence of cerebral embolization. The echocardiogram demonstrated thickened mitral and aortic valves as potential sources of emboli. We conclude that ischemic stroke secondary to cardioembolization is a potential complication of Hunter syndrome.

Adult↗
PubMed2005

Predicting the pharyngeal airway space after mandibular setback surgery.

PURPOSE: The purpose of this study is to propose a mathematical model to predict the change in pharyngeal airway space (PAS) associated with mandibular setback surgery. PATIENTS AND METHODS: Twenty-three female adults, who were diagnosed as having skeletal Class III deformity, underwent mandibular setback surgery by bilateral sagittal split ramus osteotomy (BSSO) and orthodontic multibracket treatment. The subjects were assessed within 6 months before operation (T1) and 1 to 1.5 years after mandibular setback surgery (T2). The PAS change in the level of the base of the tongue was predicted. RESULTS: The equation is: PAS narrowing = 0.386 - 0.541 ANB (T1 - T2) + 0.253 Co-Gn (T1 - T2) - 0.098 SN-GoGn (T1 - T2), where ANB is the angle formed by the planes nasion-point A and nasion-point B, Co is condylion, Go is gonion, and Gn is gnathion. The PAS change can be predicted by the mandibular changes after setback surgery 66.2% with the regression equation using the change of the ANB angle, the total mandibular length (Co-Gn) and the mandibular plane (SN-GoGn), where SN is sella-nasion. CONCLUSIONS: The equation can be used to predict the change of pharyngeal airway space after mandibular setback surgery. In patients who have other risk factors, such as obesity, short neck, macroglossia, large uvula, and excessive soft tissue around the nasopharyngeal region, a mandibular setback surgery could possibly predispose to the development of sleep apnea syndrome.

Adult↗
PubMed2005

Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature.

A case of pancreatoblastoma (PB) in a 2 month-old male infant with incomplete Beckwith-Wiedemann syndrome is presented. Clinical examination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, and enlargement of the left testis. Imaging with ultrasound and computed tomography scan showed a well-defined, heterogeneous, and grossly cystic mass arising from the head of the pancreas. Serum alpha-fetoprotein (AFP) level was elevated. The tumor was completely resected, and the histological analysis showed PB. The patient's recovery was uneventful, and AFP returned to normal values after surgery. The child has been disease-free for 5 years, and his serum AFP remained within normal values. Six other examples of this association, PB, and Beckwith-Wiedemann syndrome are recorded in the literature. The risk of developing tumor in this syndrome (complete and incomplete form) increases when hemihypertrophy is present, and the need for routine screening examination is warranted. Beckwith-Wiedemann syndrome was suggested to be a favorable biological marker for survival in children who have intraabdominal tumors.

Beckwith-Wiedemann Syndrome↗