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PubMed1980

Facial plastic surgery in children with Down's syndrome.

Six minor corrections in the face of children with Down's syndrome can clearly improve their facial expression. Reduction of macroglossia facilitates phonation. Augmentation of the bridge of the nose effaces the epicanthus. The lid axis, the hypotonic lower lip, and microgenia can be repaired. While the parents have been satisfied with the results of surgery, a positive effect on social behavior and mental development of the children has not yet been proven.

Adolescent↗
PubMed1984

[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases].

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1980

[Increase of LDH A and partial trisomy 11p (author's transl)].

An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.

Abnormalities, Multiple↗
PubMed1995

[AL amyloidosis].

AL amyloidosis is one type of systemic amyloidosis. AL represents Amyloid of Light chains (of Ig's) type. Diagnosis of amyloid must be carried out by patho-histological Congo-red stains of the biopsied materials under suspicion of amyloid deposits from patients with various clinical manifestations, including macroglossia, cardiac abnormalities, ECG abnormalities, GI tract problems or carpal-tunnel syndrome. Al amyloidosis may be also termed as plasma cell dyscrasia (PCD) associated amyloidosis, or monoclonal gammopathy associated amyloidosis. As to classification, AL amyloidosis consists of primary (or idiopathic) amyloidosis, and myeloma-associated (and then macroglobulinemia-associated) amyloidosis. As similarly to myeloma, patients with AL amyloidosis have monoclonal Ig's in the serum and-or in the urine. Furthermore, there have been known to be a higher incidence of Bence Jones proteins as well as more lambda than kappa among patients with AL amyloidosis compared with distributions of monoclonal Ig's among myeloma patients. It is also important for clinicians to recognize a data of a median survival of 12 months (only 4 months if cardiac amyloid occurred) in all patients with AL amyloid VS, a data of a median survival of about 36 months in myeloma patients. An attempt to clarify a way to an early diagnosis of AL amyloidosis should be investigated.

Amyloidosis↗
PubMedDate not supplied

Sleep apnoea in acromegaly--prevalence, pathogenesis and therapy. Report on two cases.

It has long been known, that irregular, heavy snoring and daytime sleepiness are common features of acromegaly. Only recently has the high incidence (30-60%) and clinical relevance of the sleep apnoea underlying these symptoms been recognized. Both diseases have a group of common symptoms and prognostic features: Increased cardiovascular and respiratory mortality, elevated incidence of hypertension, daytime sleepiness, decreased vitality, headaches and depression. These are very prominent in sleep apnoea and often reversible under treatment. In acromegaly their etiology has been widely unexplained and they commonly persist even when human growth hormone (hGH) levels remain normal after operative treatment. We report on 2 patients presenting with excessive daytime sleepiness and severe obstructive sleep apnoea caused by acromegaly. Both had macroglossia and hypertrophy of hypopharyngeal tissues regressive after surgical therapy. The average hGH-levels were 20 and 31 ng/ml before and 3 and 1.7 ng/ml several months after operation respectively. Apnoea indices and minimal oxygen saturations (SO2) were 59/h and 55/h, and 60% and 58% initially and improved postoperatively to 40/h and 50/h, and 72% and 70%. Polysomnographic parameters were normalized by NCPAP-therapy pre- and postoperatively and daytime sleepiness improved dramatically. In one patient the NCPAP-pressure could be decreased postoperatively. Since patients with sleep apnoea have an increased perioperative risk of hypoxia and because transsphenoidal operation and postoperative nasal tamponade were performed, both patients were tracheostomized perioperatively.(ABSTRACT TRUNCATED AT 250 WORDS)

Acromegaly↗
PubMed1994

The many guises of amyloidosis. Clinical presentations and disease associations.

Amyloidosis occurs in association with many diseases and can also be idiopathic. It is usually a systemic disease with variable presentations. The diagnosis should be suspected in patients with unexplained proteinuria, cardiomyopathy, congestive heart failure, peripheral neuropathy, carpal tunnel syndrome, macroglossia, or hepatosplenomegaly. Amyloidosis generally has a poor prognosis and responds poorly to therapy. Much needs to be learned about its pathogenesis and treatment possibilities.

Amyloidosis↗
PubMed1994

Orocephalometry and airway control in obese sleep-disordered breathers, obese normals, and matched controls undergoing general anesthesia.

Airway patency in conscious, normal humans is maintained by a complex orchestration of airway dilator muscles and reflex pathways yet is easily perturbed. Using patients at high risk for airway obstruction during anesthesia, as well as matched controls, this study sought (1) to determine if selected observations would contribute to our understanding of upper airway obstruction, and (2) to scientifically ground our clinical airway management interventions. The "at risk" patients tended to differ significantly from the controls with respect to a number of anthropometric and subjective measures which sought to describe the obstructive phenomena. At risk subjects were characterized as having a much greater incidence of induction and emergence obstruction, an abbreviated mental-hyoid distance, a flattened, compressed anterior-posterior craniofacial architecture, retrognanthism, relative macroglossia, and a narrower, bulky oropharynx. A theoretical model of airway obstruction was proposed characterizing the pharynx as a "collapsible tube" especially vulnerable in conditions such as sleep disordered breathing.

Airway Obstruction↗
PubMed1994

[Anesthetic management in a patient with Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome has three major symptoms, exomphalos, macroglossia and giantism. We report the anesthetic management of a 2-year-old male, weighing 16.1 kg and with a height of 94.6 cm, associated with bilateral retention testis. The anesthesia was maintained with oxygen, nitrous oxide, and sevoflurane. The surgery was completed safely without adverse events such as difficulty in tracheal intubation or refractory hypoglycemia. The anesthetic management of this syndrome requires: an assessment of difficulty in tracheal intubation and treatment, an understanding of the capacity of the patient's glucose metabolism, and assessment of complicated deformities. In particular, it is necessary to carry out a preoperative examination of the cardiovascular system.

Anesthesia, Inhalation↗
PubMedDate not supplied

Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII.

The genetic mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases resulting from the partial catabolism of several glycosaminoglycans (GAGs). Depending on the particular enzyme deficient in activity, the MPS syndromes are defined into groups MPS I through VII, with several subgroups for a total of 10 disorders. In humans, clinical features include dysostosis multiplex, hepatosplenomegaly, hypertelorism, macroglossia, hypoplastic and irregularly shaped teeth, hyperplastic lips and gingiva, facial dysmorphia, corneal clouding, and mental retardation. MPS I (alpha-L-iduronidase deficiency) and VI (arylsulfatase B deficiency) have been described in cats, MPS VII (beta-glucuronidase deficiency) in dogs. Biochemically, these syndromes appear the same as their human counterparts and have similar clinical characteristics. All are inherited as autosomal recessive traits. The purpose of this study was to analyze the craniofacial aspects of these diseases in the animal models and compare these data with descriptions of the human syndromes. A total of 28 live animals were examined. Thirty-one skulls prepared from postmortem specimens were measured directly and radiographed. Controls were closely related family members of the same sex and similar age without the disease, clinically or biochemically. The data indicated that, as in the human syndromes, each is distinct, and the skull bones most severely affected are those of endochondral origin.

Animals↗
PubMed1994

Uniparental disomy occurs infrequently in Wilms tumor patients.

Wilms tumors commonly exhibit loss of heterozygosity for polymorphic DNA markers located on the short arm of chromosome 11 at band p15. In some instances, the deleted region does not include 11p13, the location of the WT1 gene, suggesting the existence of a second Wilms tumor gene on 11p. Both the exclusive loss of the maternally derived allele in Wilms tumors and the recent description of constitutional paternal isodisomy for this region in patients with either the Beckwith-Wiedemann syndrome (BWS) or isolated hemihypertrophy have suggested that this second locus is subject to sex-specific genomic imprinting. Given that one of these isodisomic patients had minimal congenital anomalies (hemihypertrophy), we hypothesized that a proportion of Wilms tumors which had not lost heterozygosity for 11p markers (about 60% of all cases) might have arisen consequent to 11p paternal heterodisomy and that patients constitutionally homozygous at 11p15 might harbor paternal isodisomy. We have analyzed 40 Wilms tumor cases to determine the parental origin of the child's 11p15 alleles. Paternal heterodisomy could be excluded in all 28 unilateral and 8/9 bilateral potential candidates. It is intriguing that somatic mosaicism for 11p paternal isodisomy was detected in one child with bilateral Wilms tumor and macroglossia. Isodisomy could only be excluded in one of the three possible cases. Thus, 11p paternal hetero- and isodisomy appear to be uncommon causes of non-anomaly-associated Wilms tumors but may be more frequent in Wilms tumor patients with BWS-associated anomalies.

Aneuploidy↗
PubMed1995

[Upper airways and sleep apnea syndrome].

The imaging techniques of the upper airway (UA) now permit a description of the characteristics of pharyngeal collapse during the course of obstructive apnoea. The start is oropharyngeal with active movements anterior and posterior of the soft palate and a falling back of the tongue. The extension occurs almost systematically towards the hypopharynx. A displacement of the hyoid bone and of the cervical spine is noted synchronously with thoracoabdominal movements. These imaging techniques of UA show the occurrence of passive pharyngeal collapse during certain types of central apnoea. In snorers and in apnoeics, there is a reduction of the calibre of the pharynx. However, these abnormalities are not specific and do not enable the diagnosis to be confirmed nor an estimate of the severity of the sleep apnoea syndrome. Cephalometry and computed tomography of the pharynx should be carried out particularly when a uvulopalatopharyngoplasty (UPPP) is envisaged. For practical purposes, the existence on cephalometry of retrognathism with an MP-H > 24 mm and a PAS distance of < 5 mm is associated with a poor result for UPPP. The same thing applies when macroglossia or a reduction of the surface of the hypopharynx is found on computed tomography.

Adult↗
PubMedDate not supplied

Reduced taste perception in AL amyloidosis. A frequently unnoticed sensory impairment.

BACKGROUND: Sporadic observations suggest a possible taste impairment in AL amyloidosis, but the frequency and intensity of this sensory anomaly are not known. MATERIALS AND METHODS: We submitted 21 AL amyloidotic patients, drawn from subjects referred to the Amyloidosis Study Center of the Department of Internal Medicine and Medical Therapy, University of Pavia, to suprathreshold scaling analysis. RESULTS: Taste acuity was reduced in most of them. Every taste showed independent behavior, and 90% of these patients were hypogeusic. True ageusia for one or two tastes was observed in 35% of patients. No patient was aware of reduced taste acuity. Macroglossia did not seem to play a prominent role in dulling tastes. CONCLUSIONS: Impairment of taste perception suggests that gustative neuropathy is a frequently unnoticed expression of sensory involvement in AL amyloidosis.

Adult↗
PubMed1996

[Computed tomography of the upper respiratory tract in patients with apnea].

BACKGROUND: When deciding on the therapeutic procedure in sleep apnoea syndrome (SAS) it is important to know the anatomical conditions of the upper airways. METHODS AND RESULTS: We examined on account of SAS, verified by all night monitoring, using the MESAM4 method a total of 60 patients by means of computed tomography (CT). SAS without associated disease was diagnosed in 48 patients. To facilitate comparison of results of (CT) and MESAM4 we defined the MESAM4 score (M4) as the number of desaturations per hour multiplied by their depth (difference between mean minimal and basic saturation). Axial sections, 5mm thick at 5mm intervals were made from the level of the hard palate to the upper trachea in a vertical position to the longitudinal axis of the pharynx in the patient awake at the peak of the inspirium. The air-filled area, sagittal and coronary sections were measured at five levels (nasopharyngeal, velopharyngeal, retrobasilingual, at the level of the hyoid bone and trachea). The results differed significantly from the normal population examined by the same protocol (foreign standards). Macroglossia as a factor promoting SAS was also examined. CONCLUSIONS: The frontal and sagittal reformation reflected, on account of numerous inaccuracies, the actual state only partly. When the borderline between mild and more severe apnoea was set at M4 = 300, the correlation with the retrobasilingual section and coronary and velopharyngeal section was best. The authors suggest a simpler CT examination protocol which improves further the prediction of severity of SAS. The correlation with the body mass index (BMI) and the neck circumference (p < 0.001) confirmed the asset of CT parameters.

Adult↗
PubMed1996

Congenital stapedial fixation associated with Beckwith--Wiedemann syndrome: two cases of a woman and her brother.

Beckwith-Wiedemann syndrome (BWS) is characterized by the triad of exophthalmos, macroglossia, and gigantism (EMG syndrome) presented at birth. Two patients with BWS, a woman and her younger brother, who presented with conductive deafness caused by middle ear anomaly are reported. Stapedial fixations were confirmed by tympanotomy, and satisfactory hearing improvements were obtained by small fenestra stapedectomy. Hearing loss associated with BWS has not previously been reported. Characteristic sulci on the auricular lobe of BWS are thought to be caused by malposition of the antitragus, which originates from the second branchial arch. Stapedial fixation might be due to maldevelopment of the stapedial lamina, which also originates from the second branchial arch. There could be a causal relationship between stapedial fixation and BWS.

Adolescent↗
PubMed1996

[The clinical and morphological aspects of childhood lymphangiomas: a review of 145 cases].

UNLABELLED: Lymphangiomas are very common lesions of vascular origin. They arise in any organ or soft tissue and can be the cause of complications during childhood. OBJECTIVE: We have revised the clinical and morphological features of 145 lymphangiomas in children from birth to 16 years of age. MATERIAL AND METHODS: We have reviewed the clinical findings and the secondary complications of these benign tumors. We have performed a microscopic study of all specimens. RESULTS: In our study population, lymphangiomas were most frequent during the first year of life, most commonly arising on the head, neck and axilla. Lymphangiomas are divided into cavernous, cystic (cystic hygroma) and mixed. They are composed of lymphatic channels of variable size and have a tendency to occur between the tissue layers. CONCLUSION: Most important complications are related to the location and large size. The intra-abdominal lymphangiomas caused intestinal obstruction. The lymphangiomas in the tongue caused macroglossia. The local recurrence are is 6% for incomplete excision in cases of complicated surgery. The pathologist should examine the surgical margin.

Adolescent↗
PubMed1996

Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.

A 3-month-old Chinese male infant with typical manifestations of Beckwith-Wiedemann Syndrome (BWS), such as macroglossia, hepatomegaly, umbilical hernia and hypoglycemia, presented with a large hepatic tumor. The tumor measured 7.6 x 8.0 x 7.5 cm. An open biopsy of the tumor revealed hepatoblastoma. The family refused chemotherapy, so only supportive care was given. The tumor grew very rapidly and the infant died 17 days after admission due to respiratory failure. To our knowledge, this is the first report of BWS associated with hepatoblastoma in a Chinese infant. This patient was a typical example of the association of BWS and hepatoblastoma, and the possible effect of growth factors on the rapid proliferation of the neoplasm in BWS.

Beckwith-Wiedemann Syndrome↗
PubMed1997

Mosaic trisomy 14 with hepatic involvement.

Mosaic trisomy 14 in liveborns is rare and may be accompanied by uniparental disomy in the euploid cell line. We report the case of a 6 month old male with growth failure, microcephaly, macroglossia, developmental delay, hypotonia, congenital heart disease, neonatal hepatitis, cryptorchidism, talipes equinovarus, limb length asymmetry, bilateral overriding of 1st by 2nd toe, and extended abnormal pigmentation in a linear-whorl distribution. The proband's karyotype in peripheral lymphocytes and skin fibroblasts was mos47,XY,+14/46,XY. Parental blood chromosomes were normal. Molecular analysis excluded uniparental disomy in the euploid cell line of the proband.

Abnormalities, Multiple↗
PubMed1997

[Localizations and consequences].

The symptoms of amyloidosis depend on the type of precursor, the amount of deposits and their location. In systemic amyloidosis almost every organ may be involved. Cardiac involvement is severe, especially in AL amyloidosis, responsible for restrictive cardiomyopathy with right ventricular failure, leading rapidly to death. Renal amyloid deposition causes nephrotic syndrome with hypertension and renal failure. Neurological complications include peripheral neuropathy with dysautonomia cerebral involvement (dementia, cerebral haemorrhages). Arterial deposits are common in systemic senile amyloidosis, and may cause ischaemia. Osteo-articular damage is mainly seen in patients on long-term haemodialysis. Liver enlargement is often the only manifestation of hepatic amyloidosis. Digestive tract involvement includes macroglossia deposits in salivary glands and disturbances in gastrointestinal motility. Pulmonary amyloidosis causes nodular or interstitial infiltrates. Cutaneous lesions are various. Localized amyloidoses include goiter, breast and vesical involvement which can be difficult to differentiate from neoplasm, as well as ocular amyloidosis mimicking posterior uveitis.

Adult↗