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PubMed2006

Voice parameters in children with Down syndrome.

Down syndrome (DS) is the most frequent chromosomal disorder. Commonly, individuals with DS have difficulties with speech and show an unusual quality in the voice. Their phenotypic characteristics include general hypotonia and maxillary hypoplasia with relative macroglossia, and these contribute to particular acoustic alterations. Subjective perceptual and acoustic assessments of the voice (Praat-4.1 software) were performed in 66 children with DS, 36 boys and 30 girls, aged 3 to 8 years. These data were compared with those of an age-matched group of children from the general population. Perceptual evaluations showed significant differences in the group of children with DS. The voice of children with DS presented a lower fundamental frequency (F(0)) with elevated dispersion. The conjunction of frequencies for formants (F(1) and F(2)) revealed a decreased distinction between the vowels, reflecting the loss of articulatory processing. The DS vocalic anatomical functional ratio represents the main distinctive parameter between the two groups studied, and it may be useful in conducting assessments.

Child↗
PubMed2005

Thyroxine replacement therapy reverses sleep-disordered breathing in patients with primary hypothyroidism.

BACKGROUND AND PURPOSE: Anecdotal reports suggest that sleep-disordered breathing (SDB) is common among patients with primary hypothyroidism. This study was undertaken to determine the prevalence of SDB and to evaluate the effect of thyroxine replacement therapy on SDB in patients with primary hypothyroidism. PATIENTS AND METHODS: Fifty consecutive newly diagnosed, untreated symptomatic patients with primary hypothyroidism (age: 34+/-11 years; males: 21 [42%]) were prospectively studied. Physical examination, anthropometry, fasting blood glucose and serum lipids were performed in all patients at baseline. Polysomnography was done at baseline in all patients and was repeated after adequate thyroxine replacement in those who had SDB. RESULTS: SDB defined as apnea-hypopnea index (AHI) > or =5 was present in 15 patients (30%) at baseline and was reversible in 10 of the 12 patients evaluated following thyroxine replacement therapy (P=0.006). Thyroxine replacement therapy was associated with improvement in findings that reflect a compromised upper airway, such as macroglossia (4 [33%] vs. 1 [8%]; P=0.083), myoedema (5 [42%] vs. 1 [8%]; P=0.046) and facial puffiness (10 [83%] vs. 1 [8%]; P=0.003). CONCLUSIONS: Reversible SDB is common among patients with primary hypothyroidism. Changes in upper airway anatomy resulting from hypothyroidism probably contribute to the development of SDB in these patients.

Adult↗
PubMed2005

Fibrolipomatous hamartoma in a patient with tuberous sclerosis: report of a case.

Tuberous sclerosis is a rare congenital disorder with an incidence of 1 in 6000 births. The classic triad is seizure, mental deficiency, and angiofibromas. Orofacial manifestations include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and palate, macroglossia, high arched palate, and enamel defects. Benign tumors of the jaws including desmoplastic fibroma, calcifying odontogenic tumor, and odontogenic myxoma have been recently reported in tuberous sclerosis. This case report adds fibrolipomatous hamartoma of the mandible to this list.

Adipocytes↗
PubMed1979

Tongue lesions in children.

A review of tongue lesions in children showed that there is a great variety requiring operative intervention, often in infancy. While the presenting symptoms may be related to dysphagia and dyspnea, the aim of operative intervention should not only be to salvage life by restoration of breathing and swallowing, but also to leave a tongue capable of adequate speech, taste, sensation, and normal orofacial development. Intimate knowledge of lingual anatomy and function is necessary to allow selection of the ideal procedure and appropriate timing of the therapy. While careful observation and nonoperative approach may be indicated in non-neoplastic macroglossia, early intervention is often necessary in diffuse neoplastic lesions such as lymphangioma, fibromatosis, or fibrolipomatous dysplasia. While malignant tumors are rare in childhood, they do occur and have to ruled out.

Adolescent↗
PubMed1998

Nephromegaly in infancy and early childhood: a risk factor for Wilms tumor in Beckwith-Wiedemann syndrome.

OBJECTIVE: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome associated with macrosomia, omphalocele, macroglossia, visceromegaly and Wilms tumor (WT). We conducted a case-control study in children with BWS to examine whether nephromegaly increases the risk of WT. METHODS: The BWS Registry was used to identify control and case patients. Control patients were defined as children with BWS who were older than 6 years and had no imaging evidence of renal disease or previous WT and for whom complete records were available; 31 patients met these criteria. Case patients were defined as children with BWS who had WT and screening renal imaging before the diagnosis of WT; 12 of these patients had serial screening images before diagnosis of WT and comprised the study population. Only renal images obtained before the diagnosis of WT was made were used to assess renal length. RESULTS: All 12 patients with WT had nephromegaly (> or =95th percentile of age adjusted renal length) on serial screening studies. Only four of 31 control patients (specificity = 86%) had nephromegaly resulting in an odds ratio of 72 (95% confidence interval = 13-391) for the risk of WT with nephromegaly. CONCLUSIONS: In patients with BWS, persistent nephromegaly is a strong risk factor for the development of WT. If screening for WT is done in this population, infants with nephromegaly should be considered those at greatest risk for WT, and screening may be best targeted at this group.

Beckwith-Wiedemann Syndrome↗
PubMed1993

Symptomatic gastric amyloidosis in patients with primary systemic amyloidosis.

We reviewed the clinical records of 769 patients with primary systemic amyloidosis who had been examined at Mayo Clinic Jacksonville (Jacksonville, Florida) or Mayo Clinic Rochester (Rochester, Minnesota) during a 12-year period (1978 through 1989). Of these 769 patients, 59 (8%) had biopsy-established gastrointestinal amyloidosis, and 8 (1%) had symptomatic gastric amyloidosis. All eight patients with symptomatic gastric amyloidosis had hematemesis or prolonged nausea and vomiting in association with weight loss. Additional findings were gastroparesis (in three patients), gastric tumor (in one), and gastric outlet obstruction (in one). Macroglossia was present in two patients, and multiple myeloma was diagnosed in three. Six of the eight patients had coexisting small bowel amyloidosis and weight losses of 6.5 to 22.5 kg. Congo red staining identified gastric amyloid in the media of blood vessels in all cases. All cases stained selectively for lambda (seven cases) or kappa (one) light chain. All eight patients died; the median duration of survival after diagnosis was 13.8 months (range, 0.5 to 39.5). Death was due to cardiac failure (three patients), renal failure (two), chronic gastrointestinal obstruction and severe cachexia (two), or hepatic failure (one). Chemotherapy was given to seven patients but was only partially effective for ameliorating symptoms in one.

Amyloidosis↗
PubMed2002

Upper airway abnormalities in Canavan disease.

OBJECTIVE: To describe upper airway anatomical abnormalities associated with Canavan disease. METHODS: Retrospective case report. RESULTS: Physical examination and laryngoscopy demonstrated oropharyngeal narrowing, macroglossia, and bronchial asymmetry in a child with Canavan disease. Tracheostomy decreased problems with chronic aspiration and obstructive sleep apnea. CONCLUSIONS: Oropharyngeal obstruction and bronchial asymmetry are previously undescribed upper airway abnormalities found in an individual with Canavan disease. Tracheostomy is an effective method of managing chronic aspiration and obstruction in these patients.

Airway Obstruction↗
PubMed1998

Acute airway obstruction in Hunter syndrome.

Hunter syndrome is one of the mucopolysaccharidoses, characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. Among its physical manifestations, there are numerous head and neck signs, including characteristic facial features, macroglossia and short neck. The accumulation of glycosaminoglycans in the soft tissues of the head and neck can be associated with acute airway obstruction. We report a 7 year old boy with Hunter syndrome who developed acute airway compromise requiring an emergency tracheotomy. A review of the literature of airway management in patients with this disease is also presented.

Airway Obstruction↗
PubMed1999

Conductive hearing loss in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome is a rare genetic overgrowth syndrome presenting with organomegaly, abdominal wall defects, macroglossia, and postnatal hypoglycemia. Head and neck manifestations of this abnormality include flame nevus of the forehead and characteristic sulci of the ear lobe. We present a 7-year-old child with Beckwith-Wiedemann syndrome and a rare finding of conductive hearing loss on both sides due to congenital malleus and stapedial fixation. Small fenestra stapedotomy and mobilization of malleus fixation in the epitympanum improved the child's hearing. The bony fixation of the malleus and stapes is explained as atavism of the processus anterior mallei and peripheral lamina stapedialis in embryological development.

Beckwith-Wiedemann Syndrome↗
PubMed2000

Madelung's disease involving the tongue.

Madelung's disease or benign symmetric lipomatosis is rare. Symmetric lipomatosis of the tongue as an association of Madelung's disease is very rare; up to now only two cases of this association have been reported. We report the third case of Madelung's disease with involvement of the tongue in the form of macroglossia.

Diagnosis, Differential↗
PubMed1988

Amyloid and amyloidosis.

Cutaneous lesions are present in up to 40% of patients with primary and myeloma-associated systemic amyloidosis and occur as a result of tissue deposition of immunoglobulin light chain material derived from a circulating paraprotein. The occurrence of waxy, purpuric mucocutaneous lesions provides a crucial early pointer to underlying occult plasma cell dyscrasia; the combination of the symptoms of the carpal tunnel syndrome, macroglossia, and specific mucocutaneous lesions is highly characteristic. Although secondary systemic (reactive) amyloidosis rarely gives rise to clinically evident cutaneous lesions, it may be etiologically related to a number of chronic dermatoses. Lesions of nodular primary localized cutaneous amyloidosis are indistinguishable from those of primary and myeloma-associated systemic amyloidosis, and they result from local plasma cell infiltration. Macular and papular (lichen amyloidosus) variants of primary localized cutaneous amyloidosis may have a familial or racial basis and are characterized by a tendency for keratinocytes to undergo filamentous degeneration and apoptosis. The prognosis of patients with plasma cell dyscrasia-related systemic amyloidosis remains poor, since there is little response to therapy with cytotoxic agents, colchicine, or dimethylsulfoxide. Colchicine is the drug of choice in the prevention and treatment of the renal amyloidosis associated with familial Mediterranean fever, and dimethylsulfoxide may be useful in the management of patients with secondary systemic amyloidosis. Macular amyloid and lichen amyloidosus generally follow a chronic course with intractable pruritus; there have been isolated reports of the beneficial effect of dermabrasion, topical dimethylsulfoxide, and therapy with the aromatic retinoid, etretinate.

Amyloid↗
PubMed2004

Historical Article: Hirudo medicinalis: ancient origins of, and trends in the use of medicinal leeches throughout history.

Blood letting and the therapeutic use of Hirudo medicinalis date back to ancient Egypt and the beginning of civilisation. Their popularity has varied over the years, reaching such a peak in Europe between 1825 and 1850 that supplies were exhausted. Towards the end of the century they fell out of favour and, during this period, the leech, once used by the physicians of emperors and influential academic surgeons, became associated with lay therapists and quackery. Leeches have enjoyed a renaissance in reconstructive microsurgery during the last 15 years, having been used by maxillofacial [Br. J. Oral Maxillofac. Surg 41 (2003) 44] and other reconstructive surgeons to aid salvage of compromised microvascular free tissue transfers [Laryngoscope 108 (1998) 1129; Br. J. Plast. Surg. 34 (1984) 358], replanted digits [Int. J. Microsurg. 3 (1981) 265], ears [Ann. Plast. Surg. 43 (1999) 427], lips [Plast. Reconstr. Surg. 102 (1998) 358; J. Reconstr. Microsurg. 9 (1993) 327] and nasal tips [Br. J. Oral Maxillofac. Surg. 36 (1998) 462]. Peer-reviewed evidence suggests that the survival of compromised, venous-congested tissues is improved by early application of a leech [J. Reconstr. Microsurg. 12 (1996) 165; Arch. Otolaryngol. Head Neck Surg. 114 (1988) 1395; Br. J. Plast. Surg. 45 (1992) 235]. Leeches have also recently been used to treat a wide range of conditions, including periorbital haematomas [Br. J. Ophthalmol. 75 (1991) 755], severe macroglossia [Otolaryngol. Head Neck Surg. 125 (2001) 649; J. Laryngol. Otol. 109 (1995) 442] and purpura fulminans [Ann. Plast. Surg. 35 (1995) 300]. The first medicinal leech farm, Biopharm, was set up in Swansea in 1981 by Dr Roy Sawyer, and now supplies leeches to hospitals all over the world. In this paper, we summarise the history of treatment with Hirudo medicinalis from its origin to the present day, and take a brief look at the possible future of the annelid.

Egypt↗
PubMed2002

[Insulin-dependent neonatal and infant diabetes: genetics and physiopathology].

Insulin-dependent neonatal diabetes (ND) mellitus is uncommon with a frequency of 1/500,000 neonates in Europe. ND is characterised by hyperglycaemia, very low or undetectable insulin levels associated with intrauterine growth retardation and malformations. HLA haplotypes of juvenile diabetes or autoimmunity are not present in ND patients. Sporadic and familial forms are observed. ND could be persistent (PND) or transient (TND). Diabetes relapses occur in approximately 40% of TND patients. Hypothesis for ND aetiology such as pancreatic or beta pancreatic islets of Langerhans immaturity or abnormalities of pancreas organogenesis are postulated. Different genetic basis underlie transient or permanent forms though their clinical features do not allow to distinguish them. TND may in about 20-30% of the cases be associated with chromosome 6 paternal uniparental disomy. A candidate locus for an imprinted gene is mapped to 6q24. The permanent forms are less understood. Homozygous mutations of the IPF1/PDX1 (MODY4) and of the Glucokinase (GK, MODY2) genes have been reported. The association of a ND with a macroglossia should be a strong indicator for genetic testing. The genetic findings of a paternal disomy uniparental allows the prediction of a transient rather than a permanent form. Mutation in the Glucokinase gene should be sought in an infant with ND whose first degree relatives have glucose intolerance.

Chromosome Banding↗
PubMed1996

Obstructive sleep apnea and related disorders.

OSAS, a common cause of disrupted sleep and EDS, result from repetitive closure of the upper airway during sleep. It probably represents the most severe syndrome related to obstruction of the upper airway; less severe forms include UARS, a syndrome characterized by the need for increased effort to breath but no prominent apneas or hypopneas, and primary snoring. Initial clues to the presence of OSAS and related disorders are derived from the history and include loud snoring, EDS or insomnia, and witnessed apneas. Some patients, especially women, may complain mostly of tiredness or fatigue, and children may present with behavioral abnormalities. Obesity, a large neck circumference, and a crowded oropharynx are common on physical examination. Nonobese patients, in particular, often have retrognathia, a high-arched narrow palate, macroglossia, enlarged tonsils, temporomandibular joint abnormalities, or chronic nasal obstruction. The clinical suspicion of obstructed nocturnal breathing is confirmed by overnight polysomnography, and an MSLT may be used to assess sleepiness. Esophageal manometry during polysomnography facilitates diagnosis of UARS. Treatment most commonly consists of nasal CPAP or BPAP, although problems with compliance make surgical treatment preferable in some cases. Although UPPP eliminates sleep apnea only in a minority of patients, combining UPPP with maxillofacial procedures appears to improve outcomes. Other treatments such as the use of dental appliances or medications, weight loss, and positional therapy may be useful as adjunctive therapy for moderate to severe OSAS or as primary treatments for UARS or mild OSAS.

Adult↗
PubMed2003

[Difficult tracheal intubation in paediatric: myth or reality?].

Difficult tracheal intubation is a rare event according to the airway feature in child. This situation is mostly predictable, occurring in identified malformations and in specific diseases. Pre-operative clinical evaluation must detect facial abnormalities (lip or palate cleft, microtia, facial asymmetry.), micro or retrognathia, limited mouth opening, reduced distance between thyroid cartilage and chin, macroglossia and external ear malformations. According to this clinical evaluation, a strategy for managing difficult tracheal intubation is planned.

Child↗
PubMedDate not supplied

Ectopic spleen and left-sided vena cava in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome characterized by anterior abdominal wall defects, macroglossia, and gigantism. A variety of other abnormalities have been described, however association with ectopic spleen and left-sided vena cava has not been reported previously. We report ectopic spleen, left-sided vena cava and the other abdominal imaging findings of an adult BWS case who came up to date without any follow-up from the early childhood.

Adult↗
PubMed2001

[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology].

UNLABELLED: Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. CASE REPORT: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder. CONCLUSION: In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology.

Arylsulfatases↗
PubMed2000

Craniofacial abnormalities induced by retinoic acid: a preliminary histological and scanning electron microscopic (SEM) study.

Exogenous retinoic acid has been found to be teratogenic in animals and man. Craniofacial defects induced by retinoic acid have stimulated considerable research interest. The present report deals with scanning electron microscopical observations of the craniofacial region concurrent with histological examination of craniofacial dysmorphism induced in rat embryos following maternal treatment treated with varying dosages of all-trans-retinoic acid (tretinoin). Two groups of pregnant rats were treated with rat embryos exposed to retinoic acid suspended in corn oil (100 mg/kg b.w. on gestational day 11.5 and 50 mg/kg b.w. on gestational day 10, 11 and 12 respectively). A third group was treated with corn oil (vehicle) while a fourth group remained untreated. A wide spectrum of congenital abnormalities, including exophthalmos, microphthalmia and anophthalmia, maxillo-mandibular dysostosis, micrognathia of both maxilla and mandible, cleft palate, subdevelopment of ear lobe, preauricular tags and macroglossia, were observed in the offspring of retinoic acid treated animals. The abnormalities were both time and dosage dependent, and characteristic of Treacher Collins syndrome when retinoic-acid was administered on gestational day 11.5. In contrast, when retinoic acid was administered were on gestational days 10-12, the defects were similar to those seen in the first and second pharyngeal arch syndrome, as well as in the oculo-auriculo-vertebral spectrum. Whereas our data support the hypothesis that all-trans retinoic-acid disturbs growth and differentiation of several embryonic cell types essential for normal craniofacial development, its mechanism of action remains unclear.

Abnormalities, Drug-Induced↗