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PubMed2005

A child with Beckwith-Wiedemann syndrome and posterior urethral valves.

Beckwith-Wiedemann syndrome is a somatic overgrowth syndrome characterized by a variable incidence of congenital anomalies, including hemihypertrophy, omphalocele, macroglossia and renal malformations. We report a child with Beckwith-Wiedemann syndrome and posterior urethral valves. Urethral valve resection was successfully performed under general anesthesia after voiding cystourethrography. This is the first report of Beckwith-Wiedemann syndrome associated with posterior urethral valves.

Beckwith-Wiedemann Syndrome↗
PubMed1992

[Non hypertrophic amyloid myopathy with muscular inflammation in plasma cell dyscrasia].

The case of a 41 year old woman with amyloid myopathy is reported. Clinical involvement consisted of limb girdle muscle weakness, mild scapular muscle atrophy and dysphagia. In contrast with the published cases, abnormal firmness, pseudohypertrophy of the musculature and macroglossia were absent. Muscle biopsy showed endo- and perimysial amyloid deposits but also inflammatory infiltrates. Inflammatory cells typing was studied by immunocytochemical methods and revealed a predominant T-helper cell infiltration. Free kappa light chains were present in serum and urine. Serum immunoglobulin levels were reduced. Bone marrow examination revealed mild plasmocytosis without abnormal cells. Immunofluorescence and immunoperoxidase techniques for identification of the type of amyloid fibrils showed positivity with antisera to kappa light chains. A 4-year follow-up revealed a progressive worsening of muscle weakness despite immunosuppressive treatment. No malignant plasmocytosis occurred. The unusual inflammatory muscle infiltration observed in this case may suggest an associated polymyositis.

Adult↗
PubMed2005

[Amyloidosis in the course of multiple myeloma].

The amyloidoses are group of heterogeneous disorders, in which synthesized and secreted proteins, as a soluble molecules, are formed into insoluble, fibrillar tissue deposits, leading to organ dysfunction. Classification now is based on the chemical nature of the fibrillar component of the deposits. One of these is light-chain amyloidosis (AL). The aim of the study was to describe of multiple myeloma patients and amyloidosis. The study group consisted of 45 patients (16 men and 29 women). The diagnosis was made by fine-needle aspiration of subcutaneous fat and then staining the tissue with Congo red. We also analyse the concentration of the serum SAA. We analyse the most characteristic features of AL as hearth failure, proteinuria, renal failure, carpal tunnel syndrome, hepatosplenomegaly, macroglossia and orthostatic hypotension. Among the multiple myeloma patients we found 17 with AL amyloid and 35 persons with elevated concentration of the serum SAA. The most frequent symptoms were related with renal failure and heart failure.

Adult↗
PubMed2006

[Anesthetic management of a boy with sialidosis].

Sialidosis is an autosomal recessive disease caused by neuraminidase deficiency, which causes material rich in sialic acid to accumulate in various tissues and organs, leading to morphological and functional changes. Mainly the osteoarticular, cardiorespiratory, and central nervous systems are affected. We report the case of a 14-year-old boy diagnosed with sialidosis type 2 who was proposed for spinal column arthrodesis to treat severe thoracolumbar scoliosis. Physical examination revealed pectus carinatum; facial deformity and macroglossia; hypertelorism and frontal bossing; short neck; atlantoaxial subluxation; severe arthrogryposis of elbows, knees and wrists, coxa valga, and club foot. Relevant medical history included moderately severe aortic valve insufficiency and myoclonic epilepsy. Surgery was performed under balanced anesthesia. Awakening was delayed and the patient was transferred to the intensive care unit under mechanical ventilation. Anesthetic problems that can present in patients with such deformities include difficult airway, complicated management of associated cardiopathy, and difficult weaning from mechanical ventilation.

Adolescent↗
PubMed1991

Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome.

The Insulin-like growth factor II (IGF-II) gene has been analysed by Southern blotting in healthy and tumor tissue in two children with Beckwith-Wiedemann syndrome, using the enzymes, AvaII and SacI. Loss of heterozygosity was determined not only in the DNA of a nephroblastoma, but also in the healthy kidney, leukocytes and fragments of tongue removed for obstructive macroglossia. Allele loss therefore seems to be sufficient to provoke tumorigenesis in some tissues, but not in others.

Beckwith-Wiedemann Syndrome↗
PubMed1991

[Diagnosis of gastrointestinal amyloidosis with special reference to the relationship with amyloid fibril protein].

Forty-five patients with proved gastrointestinal amyloidosis were examined to study the clinical and pathological features and to determine the correlation with amyloid fibril proteins. The examinations included physical examination, laboratory study, plain X-ray film of the abdomen, gastrointestinal radiography, gastrointestinal endoscopy, endoscopic biopsy, surgery, and autopsy. The results were as follows: 1) Amyloid fibril proteins consisted of amyloid light chain protein (AL) in 7 patients, amyloid A protein (AA) in 36, beta 2-microglobulin (AH) in one, and prealbumin (AF) in one. 2) At the time of examination, gastrointestinal symptoms were present in 43 (96%) of the 45 patients. The incidence of diarrhea and gastrointestinal bleeding was higher in patients with the AA type than in those with other types, whereas abdominal distension, nausea, and vomiting were more frequently evident in patients with the AL type. 3) The incidence of hypoalbuminemia, hypokalemia, and positive occult blood was higher in patients with the AA type, whereas abnormal electrocardiogram and cardiac failure were more frequently observed in patients with the AL type. The thyroid gland was enlarged in 7 patients with the AA type, and the macroglossia was evident in only 2 patients with the AL type. 4) The frequency of radiographic abnormalities in the gastrointestinal tract was as follows: 79% of the patients in the jejunum and ileum, 61% in the duodenum, 53% in the stomach, 32% in the colorectum, and 14% in the esophagus. Fine granular shadows were most frequently seen in patients with the AA type, whereas multiple polypoid protrusions and thickening of the folds were characteristic in patients with the AL type. 5) Endoscopic abnormalities were found as follows: 82% in the duodenum, 81% in the jejunum, 73% in the stomach, 42% in the colorectum, and 20% in the esophagus. Endoscopy revealed fine granular appearance in 31 (86%) of the 36 patients with the AA type, whereas multiple polypoid protrusions and thickening of the folds were evident in 5 (71%) of the 7 patients with the AL type. 6) On the histological examination of the biopsy specimens, amyloid deposition was found in the duodenum in 98% of the 45 patients studied, in the jejunum in 96% of the 26 patients, in the antrum in 93% of the 41 patients, and in the rectum in 86% of the 43 patients. 7) Histological findings of the biopsy and autopsy specimens revealed that the the degree of amyloid deposition was the highest in the duodenum and jejunum of the gastrointestinal tract.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗
PubMed1991

[Motor impairment in amyloid-associated muscle pseudohypertrophy].

Muscle involvement, usually associated with pseudohypertrophy, has been described very rarely in patients with AL-(primary or myeloma-associated) amyloidosis. Although precise mechanisms for the motor impairment in amyloid-associated muscle pseudohypertrophy are unknown, amyloid accumulation in the muscle has been thought to be a main cause of muscle weakness. We here describe a patient of amyloid-associated muscle pseudohypertrophy with IgA lambda plasma cell dyscrasia, and discuss possible mechanisms for the physical disability. The patient, a 65-year-old man, was admitted because of progressive stiffness of limb and bulbar muscles for approximately three years. On physical examination he appeared muscular and athletic. The muscles were firm with wooden or rock-like hardness. Superficial veins were engorged in all extremities. Macroglossia was marked. Resistance to passive movement was noted in all extremities with decreased range of motion; proximal joints were more severely affected. The patient walking for a short distance, his legs became heavy, tired and firm, which forced him to stop. Immunoelectrophoresis revealed the monoclonal secretion of IgA lambda in the serum and free lambda light chain in the urine. Bone marrow examination disclosed 30% plasma cells with a large prevalence of IgA lambda-containing cells. A bone scan showed an increased uptake of 99mTc-methylene diphosphate in the shoulder and pelvic joints. Tissue pressures of the quadriceps femoris at the supine and standing positions, and after walking were as high as 47, 89, and 112 mmHg, respectively. Venography of the left leg showed narrowing of the femoral vein and visualization of saphena magna vein.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1991

[CNS disorders caused by metabolic disorders].

A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus, dyspnea, convulsion, coma and so on, and these are not specific to each disorder. However, such symptoms or signs as described below have often intimate relation to metabolic disorders: (1) previous children died of undetermined causes during early infancy; (2) complication of sepsis; (3) onset in the early neonatal period; (4) developmental and growth retardation. When newborns and infants have these symptoms or signs, we should start simple screening studies immediately for metabolic disorders, including CBC, hepatic function tests, blood glucose, lactate, pyruvate, ketone bodies, ammonia, blood gas analysis, urinalysis (including non-glucose reducing substance tests and FeCl3 reaction) and so on. As for CBC, we have to make our own effort to find spherocytosis and vacuoles in lymphocytes. Family history, especially the mother's personal history, is indispensable. During physical examinations, we must pay attention to facial appearance, skin color, macroglossia, hair abnormalities, peculiar odor of the urine and hepatosplenomegaly. When abnormality is found in these clinical signs or simple laboratory examinations, we should not hesitate to start dietary treatment even if special examinations for differential diagnosis are on the way.

Blood Gas Analysis↗
PubMed1990

[Ultrasonographic diagnosis of developmental facial defects in fetuses].

Findings of 55 ultrasound examinations have been evaluated in 35 fetuses with various facial malformations detected by ultrasound and confirmed at birth. Ultrasonographic presentations and diagnostic criteria are given for major facial, palate and lip clefts, abnormal nasal shape, hypo and hypertelorism, microphthalmia, exophthalmia, micro and macrogenia, macroglossia. Ultrasonography proves to be a highly revealing diagnostic study with the provision of a good structural visualization and physicians' skill.

Cleft Palate↗
PubMed1989

Becker muscular dystrophy.

Five patients from 3 families with Becker muscular dystrophy (BMD) were reported. The main clinical and laboratory findings were in common. Pairs of affected brothers are quite resembled each other. However, there are also some variations among different families. The disease occurred later in the first pair of brothers and was accompanied by macroglossia and red-green color blindness, while the second pair got the disease earlier, which was accompanied by heart impairment. It is interesting that both myogenic and neurogenic changes of EMG can be found in the same patient with BMD in our series.

Adolescent↗
PubMed1989

[Amyloidosis and amyloid deposits. Amyloidosis of the lower respiratory tract].

Amyloid is defined by its affinity for Congo red, which gives it a characteristic green birefringence in polarised light. This peculiarity is the result of its structure in beta-fibrillary folds, which is common to all biochemical varieties of amyloidosis whatever the origins of the immunoglobulin, reactive AA or prealbumin for example. Tracheobronchial amyloidosis exists in two forms: a pseudotumoral mass of a few millimeters in diameter discovered by chance at endoscopy without producing any clinical signs; and multi-focal sub-mucosal plaques which lead to bronchial stenosis and which can be destroyed by laser. Parenchymal amyloid can be nodular, or diffuse and interstitial. The amyloid nodules are single or multiple and their size varies from a few millimeters to several centimeters; they lead to few symptoms and do not require any treatment in the majority of cases if the diagnosis has been achieved by transparietal puncture for example (but the diagnosis is made above all by the excision of a mass which is presumed to be neoplastic). Diffuse interstitial parenchymal amyloid involves the alveolar region: it is a not uncommon finding at necropsy when it only infiltrates the vessels, it can give rise to the symptomatology of an interstitial pneumonia when there is widespread infiltration of the alveolar-capillary zone. The distinction between this type of diffuse interstitial amyloid and the miliary micro-nodular amyloidosis is sometimes difficult with overlapping between these two entities. Amyloid may also involve the pleura, the mediastinal nodes, the respiratory muscles and in particular the diaphragm; macroglossia may be responsible for obstructive sleep apnoea. Tracheobronchial amyloid and pulmonary nodules are generally localised to the respiratory system, whereas diffuse interstitial amyloid is combined in a group along with systemic amyloid. There is no specific treatment for amyloidosis.

Amyloidosis↗
PubMed1989

[Joint and functional changes in the masticatory system in chronic rheumatoid arthritis in adults. Preliminary study].

A clinical and radiological study has been carried out to highlight signs and symptoms of mandibular dysfunction in a sample of 66 adult patients suffering from chronic rheumatoid arthritis. Data were quantified on the basis of Helkimo indices. Prevalence proved significantly high, particularly as regards joint crepitus, reduced mandibular mobility, pain in the masticatory muscles and macroglossia. It did not seem to be linked to age. Rather it presented a definite predominance of the female sex, confirmed by comparison with a sample of nonrheumatic controls. Contemporaneous X-ray examination showed a bilateral location, in many cases remodelling and reabsorption of the condyle, an increase in the articular space and erosion of the fossa, at times reduction in the space and sclerosis, dependent on a superimposed degenerative arthrosis (usually more painful). Generally speaking, however, there was a coincidence between severity of clinical dysfunction and seriousness of the morphological lesions whereas subjective symptoms were relatively independent. The need for polyspecialistic cooperation and a multidisciplinary therapeutic approach is reiterated.

Adult↗
PubMedDate not supplied

[Clinical and epidemiologic study on the correlation of chronic rheumatoid arthritis in adults and stomatognathic dysfunction].

A clinical investigation was performed on a sample of 91 randomly selected rheumatic (R.A.) patients, 70 females and 21 males (mean age 52.6), and in a control group of 41 not R. A. subjects, in order to identify the prevalence of signs and symptoms of temporo-mandibular joint (t.m.j.) dysfunction. The collected data were used to calculate the Helkimo Anamnestic and Clinical Indices. Signs of dysfunction were found in almost all the subjects (except three) and their frequency was significantly higher in women than in men (p less than 0.01). The most common clinical findings were: crepitus from t.m.j. (not significant), impaired mandibular mobility (p less than 0.001), tenderness to palpation of the masticatory muscles, and macroglossia (p less than 0.01). Radiographic examination was also performed in 51 patients, showing in many cases signs of inflammatory arthritis as well as of overimposed degenerative arthritis. The survey showed a significant incidence of structural and functional involvement of t.m.j. in R.A.

Adult↗
PubMed1989

[Amyloidosis in plasmacytic myeloma with dominant manifestations of joint involvement].

The authors describe a case of plasmocytic myeloma complicated by the development of systemic amyloidosis. The symptoms were dominated by marked macroglossia and arthropathy which by the objective finding and subjective manifestations imitated rheumatoid arthritis. In the discussion the authors emphasize general manifestations of amyloid arthropathy.

Aged↗
PubMed1985

The effect of syndrome diagnosis on speech remediation.

On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.

Abnormalities, Multiple↗
PubMedDate not supplied

Magnetic resonance imaging in primary amyloidosis.

Twelve patients with primary amyloidosis (AL) were investigated with magnetic resonance imaging (MRI). In 9 patients an abnormal thickening of the heart walls was present and in 2 macroglossia was found at MRI. T1 was significantly increased in liver (p less than 0.05) and subcutaneous fat (p less than 0.01) while it was decreased in the spleen (p less than 0.05). T2 was significantly decreased (p less than 0.01) in the spleen in patients with amyloidosis, while it was not significantly altered in the liver or subcutaneous fat. After therapy T1 of the liver was reduced towards normal values in 4 patients. It is concluded that MRI might be a method to quantitate the amount of amyloid deposits in the tissue, and that the effect of therapy may be monitored with this technique.

Aged↗
PubMed1987

Full trisomy 22 in a newborn infant.

Karyotype 47,XY,+22 was found in a newborn infant with primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic finger nails, hypoplastic genitalia, short lower limbs, bilateral sandal gap and deep plantar furrows. The child developed signs of congenital heart disease and died at the age of 10 weeks. Non-disjunction studies showed maternal origin (meiosis I) of the extrachromosome.

Adult↗
PubMed1988

[Sleep-apnea syndrome. Elucidation, therapy and course].

Of 22 patients investigated for sleep disorders, habitual snoring and/or daytime hypersomnolence, 12(10 men) had obstructive sleep apnea syndrome (OSAS). 3 OSAS were mild, 5 moderate and 4 severe. The leading symptoms were daytime hypersomnolence and habitual snoring. As risk factors we found retro-micrognathia in 2 patients, macroglossia secondary to acromegaly in 1, alcohol abuse in 7 and obesity in 6. Conservative measures improved the disorder subjectively in 6 patients. One patient had a relapse 6 months after uvulopalatopharyngoplasty. 4 patients were successfully treated by nasal CPAP. Other diagnoses were idiopathic alveolar hypoventilation (2), Cheyne-Stokes breathing secondary to low cardiac output (1), monosymptomatic narcolepsy (2), sleep disturbances secondary to depression (2), chronic benzodiazepine abuse (1) and chronic bronchitis without nocturnal hypoxemia (1). History, clinical observation and oxymetry make diagnosis possible in most cases of OSAS severe enough to require treatment. Polysomnography is time-consuming and should be reserved for selected cases.

Adult↗