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At least 613 records · Page 34Linked to original sources
PubMed1987

[Pseudo-hypertrophic pelvi-crural amyloid myopathy in lambda light-chain myeloma. Clinical, morphological and immunocytochemical study].

The case of 65 year old woman with progressive enlargement and "wooden" induration of the pelvic girdle and thigh muscles due to an amyloid infiltration is reported. Muscle changes appeared two years after a diagnosis of myeloma with free lambda light chains. The patient complained of muscle pain, lassitude and weakness. Macroglossia was present. Skeletal muscle (vastus lateralis) contained large amounts of amyloid substance and showed type 2B atrophy. There was no fiber type grouping. Some amyloid deposits abutted on the muscle fiber, destroyed the basal lamina and sarcolemma, but never infiltrated it. Besides the amyloid phagocytosis by macrophages, a relationship between amyloid filaments and fibroblasts was present. Another non-congophilic substance was revealed using the Avidin-Biotin peroxidase complex to localize lambda light chains by light microscopy and corresponded to a granular substance in electron microscopy. Clinicopathological results are discussed with a review of thirteen similar cases previously reported.

Aged↗
PubMed1988

[Bullous amyloidosis].

The patient, a 75-year old man, was admitted in May, 1986 for separation of the epidermis and extensive ecchymotic patches. Physical examination showed numerous haemorrhagic erosions on the extensor aspect of the limbs, feet and hands, and wide patches of epidermal separation in the axillary and dorsal regions. Ecchymotic purpura was present on the limbs, abdominal wall, neck and right orbital region. Nikolsky's sign was positive at the periphery of the lesions. Epidermal cysts, 1 to 5 mm in diameter, were visible on the back of the hands and on the upper part of the neck. There was no macroglossia. Several biopsies were performed in both diseased and healthy skin. Light microscopy of the diseased skin showed, at the junction of the papillary and middle dermis, a band of eosinophilic deposit in which were true intradermal bullae containing red cells. Congo red and thioflavine T stainings were positive, forming a dermal band. At direct immunofluorescence IgG, IgA, IgM as well as the C3 and C9 components of complement were absent. At electron microscopy there was no bullous separation at the dermoepidermal junction; the dermal deposits had a dense amyloid-like fibrillar structure without ramifications. Laboratory examinations showed lambda-2 monoclonal gammopathy with normal levels of IgG and IgA and slightly decreased IgM. Bence-Jones protein was found in the ruin. Bone marrow examination showed 8 p. 100 plasmocytes. The diagnosis was: non myelomatous lambda-2 monoclonal dysglobulinaemia. Amyloid deposits were found in biopsies of the gums and rectum. Other investigations gave negative results. Bullous lesions have been reported in about 20 cases of primary amyloidosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1987

Diagnosis and treatment of hypothyroidism in children.

Congenital hypothyroidism is a relatively common endocrine disorder, affecting one in 4000 newborn infants. Undiagnosed and untreated congenital hypothyroidism will result in un-toward consequences, including mental retardation and other significant neurologic sequelae. For these reasons, programs to screen newborns were developed to detect congenital hypothyroidism before clinical features become obvious enough to suggest the diagnosis. The most common clinical features include prolonged jaundice, skin mottling, hypotonia, umbilical hernia, constipation, and macroglossia. Congenital hypothyroidism may be caused by several different disorders; ectopic thyroid glands represent the most common cause. There is accumulating evidence that autoimmune thyroid disease as manifested by TBII may be the cause of thyroid dysgenesis in some cases. The diagnosis is easily confirmed by finding a low serum free T4 or total T4 and elevated serum TSH concentration. The treatment of choice is levothyroxine; these infants must be followed carefully to ensure normal growth and development and maintenance of serum T4 and TSH within the normal ranges. With appropriate treatment and follow-up, the large majority of these infants have an excellent prognosis, with an IQ no different from comparison populations. However, it appears that there is still a small percentage of infants who are the most severely affected, who manifest the lowest serum T4 levels, thyroid aplasia, and retarded bone ages, and who may run the highest risk for some degree of retardation and other neurologic sequelae. Acquired hypothyroidism is also a relatively common disorder, occurring in one in 500 to one in 1000 school-age children. These children most commonly have a slowdown in growth, short stature, a goiter, and a drop in school performance. Other clinical features may be subtle or absent except in more severe or long-standing cases. The most common cause is chronic lymphocytic thyroiditis. The diagnosis is easily established by finding low serum-free T4 or total T4 and elevated serum TSH concentrations. Again, levothyroxine is the treatment of choice. With appropriate treatment and follow-up, all clinical features that develop after age 3 should be reversible and the prognosis should therefore be very good.

Child↗
PubMed1987

[Barraquer and Simons lipodystrophy. Complement anomalies and cutaneous leukocytoclasic vasculitis].

In a 56-year old woman progressive partial lipodystrophy began at the age of 6 years on the face, thereafter extending slowly down to mid-thigh level (fig. 1 and 2), with moderate hypertrophy of the subjacent fatty tissue and a fatty macroglossia (fig. 3). Histological examination of the lipodystrophic skin not only showed an absence of fatty tissue, but also abnormalities at the dermis-epidermis junction with hyaline bodies (fig. 4). At the age of 23 she developed purpura, predominantly on the legs, which rapidly became chronic (fig. 5); histological examination showed leucocytoclasic vasculitis of dermal vessels (fig. 6) with granular deposits of C3 on the vessels and of IgM at the dermis-epidermis junction. Episodes of polyarthralgia and headaches were frequent. Regressive neuritis of the external popliteal nerve occurred when she was 53-year old. Renal function tests proved normal, but renal biopsy was not performed. There was no diabetes mellitus, but an oral glucose tolerance test and a somatostatin insulin glucose test elicited definite resistance to insulin. A search for a serum factor inhibiting insulin receptors was negative. Permanent abnormalities in serum were a very deep fall in C3, a pronounced fall in CH50 and a low C4 level. Besides, a C3 nephritic factor (NeF) at a high level and circulating immune complexes were present (table I); a mixed IgM-IgG cryoglobulin was found intermittently (fig. 7). Clearance of the immune complexes by splenic macrophages was extremely slow. During a series of plasma exchanges, serum C3 increased transiently, whereas serum C4 remained unchanged (fig. 8).(ABSTRACT TRUNCATED AT 250 WORDS)

Antigen-Antibody Complex↗
PubMed1986

[Hemolymphangioma of the tongue treated with combination embolization-surgery. Apropos of a case].

Hemolymphangioma of the tongue is a benign vascular tumor. Episodes of activity lead progressively to the development of macroglossia which causes secondary complications. The clinical diagnosis of the tumor is confirmed by arteriography with superselective catheterisation. Arteriography assesses blood flow in the malformation, serving as a basis for classification and permitting embolisation of the tumor, the first stage of treatment.

Child, Preschool↗
PubMedDate not supplied

Lymphangioma of the tongue: report of case.

Lymphangiomas are benign tumors of the lymphatic vessels, usually found in children. Lymphangiomas, however, may be misdiagnosed and in the absence of treatment may increase in size, producing macroglossia, swallowing and speech interferences, and respiratory difficulty. The size and isolated location of the lesion in the midline of the tongue reported here are unusual; few similar cases have been reported in the literature. Complete surgical excision provided not only removal of the lesion, but allowed normal recontouring of the tongue.

Child, Preschool↗
PubMed1987

[Terminal partial mosaic monosomy of the short arm of chromosome 3, in discordant monozygotic twins, 46,XY/46,XY, del (3) (p25)].

A 22 months old male child, a second monozygotic twin with distal partial monosomy of the short arm of chromosome 3 in mosaicism and anomalies in dermatoglyphics is described. Patient presents retardation of intrauterine and postnatal growth, psychomotor retardation, microcephalia, mongoloid deviation of palpebral clefts, macroglossia with constant sucking, congenital cardiopathy cryptorchism, hypospadias and generalized hypertonia. Twin is a normal infant with normal karyotype. Genotypic similarity and clinical picture is discussed.

Chromosome Banding↗
PubMed1985

[Value and results of glossectomy in open bite].

Partial glossectomy is an important part of the treatment of a number of forms of apertognathia, provided it is performed wisely with a rigorous technique (i.e. with sufficient resection and adapted to the lesions produced by the macroglossia). It can obtain favourable and constant results.

Adolescent↗
PubMed1985

Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review.

A newborn female infant presented with hypotonia, joint hyperextensibility, cardiac murmur, macroglossia, and hepatosplenomegaly. Karyotype of the child revealed partial trisomy of chromosome 11p derived from a paternal balanced translocation. Echocardiogram obtained in the newborn period suggested interatrial aneurysm, which was confirmed on post-mortem examination. Interatrial septal aneurysm is a rare abnormality not previously described in partial trisomy 11p.

Chromosome Banding↗
PubMed1985

Trisomy 11p15 and Beckwith-Wiedemann syndrome. Report of two new cases.

An association between trisomy 11p15 and Beckwith-Wiedemann syndrome is described in two brothers. The first presented at birth with gigantism and macroglossia, umbilical hernia and abdominal distention, hypoglycemia and atresia of the pulmonary artery, leading to the diagnosis of Beckwith-Wiedemann syndrome. Facial dysmorphism also included: a hypoplastic midface, hypertelorism, and a short nose with a flattened bridge. The karyotype showed a trisomy 11p15 with a monosomy 18p11, due to a t(11;18)(p154;p111)pat. His brother, born a year later, showed the same signs. The association between trisomy 11p15 and Beckwith-Wiedemann syndrome is in certain cases well established.

Beckwith-Wiedemann Syndrome↗
PubMed1985

Ten years' experience of an amyloid clinic--a clinicopathological survey.

The aetiology, clinical course and affected organs were studied in 124 patients with acquired systemic amyloidosis and seven patients with organ-limited amyloid deposits. Seventy-five patients had reactive systemic AA amyloidosis, which was associated with rheumatic disease in 55 and with chronic infection in 13 cases. Forty-nine patients had systemic AL amyloidosis. Thirteen of these cases were associated with myelomatosis and 11 with non-malignant immunocyte dyscrasias. In 25 patients with systemic AL disease no immunocyte dyscrasia was identified. Renal involvement dominated the clinical course of both forms of systemic amyloidosis, and renal failure was the most common cause of death. Gastrointestinal disturbance and hepatosplenomegaly were found in both AA and AL disease, although differences were noted in the distribution of amyloid protein within rectal biopsies. Amyloid cardiomyopathy, neuropathy and macroglossia were present in patients with AL amyloidosis only. These clinical patterns were reflected by tissue distribution at necropsy in 67 patients.

Adolescent↗
PubMed1985

[A new case of trisomy 5p].

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.

Abnormalities, Multiple↗
PubMed1979

Therapy of primary amyloidosis with melphalan and prednisone.

Two patients with progressive primary amyloidosis, monoclonal serum and urinary proteins, multiple organ involvement, and nephrotic syndrome were treated with melphalan and prednisone for one year. In one patient, splenomegaly and nephrotic syndrome rapidly responded to therapy but massive hepatomegaly responded slowly, requiring 15 months' time for normalization of size. Results of liver function tests, although improved, remained abnormal, and amyloid deposits remained in the marrow. A second patient also demonstrated dramatic diminution in proteinuria and improvement in liver function abnormalities, but macroglossia persisted. These observations suggest that amyloid organ involvement may be reversible with differences in organ responsiveness to chemotherapy. An empirical trial of chemotherapy may be indicated in some patients with progressive primary amyloidosis, and therapy may need to be continued for a prolonged period of time before seeing an effect.

Amyloidosis↗
PubMed1981

[Subclinical hypothyroidism in infancy (author's transl)].

Clinical symptoms of hypothyroidism (constipation, macroglossia, umbilical hernia, typical face hyperbilirubinaemia) were found in a 4 months old infant. Body height and activity were normal and the skin did not show the typical dryness. Total-thyroxin (T4) level was normal as well as basal thyrotropin (TSH), only after stimulation with thyrotropin releasing hormone (TRH) an exaggerated response was observed. These hormonal findings are typical for subclinical hypothyroidism, a well known disturbance in adults. The clinical as well as therapeutic considerations are discussed in this patient.

Child, Preschool↗
PubMed1984

[Familial chronic mucocutaneous candidiasis. Study of 2 families].

Four cases of familial mucocutaneous candidiasis corresponding to two families were studied. In two of the cases (Family I), there were lesions in the mouth, vaginal mucosa, nails, palms and soles, with no other associated infections. In the other two cases (Family II) there were oral (glossitis with macroglossia), genital and inguinal folds lesions, associated to frequent bacterial infections (recurring forunculosis , pneumonia). The immunological study in the four cases showed overlapping results: anti-candida circulating antibodies at high dilutions, a negative or weakly positive candidine a negative TTL to candida in some of the cases, and not other abnormalities in T. lymphocytes. All of the cases became sensitive to DNCB. In two of them, there were low figures of ferritin (Family II); however, no improvement was obtained with an iron treatment. There were no endocrinological abnormalities in any case. All of the cases were cured with ketoconazole in a few months, and no relapse was found six months after the end of the treatment in one of them. A follow up could not be performed on the other three cases.

Adolescent↗
PubMed1984

Infantile-acute acid maltase deficiency (Pompe's disease): studies of muscle cultures.

Muscle was cultured from a 7-month-old boy affected by generalized weakness, macroglossia, cardiomegaly, hepatomegaly and increasing dyspnea. Muscle biopsy showed a vacuolar myopathy with glycogen accumulation (Pompe's disease). The muscle was cultured to verify whether the abnormality could be expressed in culture during myogenesis. In the living muscle cultures, phase-contrast microscopy revealed that myotubes as young as two weeks were vacuolated and that the vacuolization was higher in the older cultures compared to parallel control cultures. Fluorescent microscopy by acridine orange staining of the cultures showed a marked increase in acridine orange positive material (presumptive lysosomes) throughout the sarcoplasm. Electron microscopic data revealed myofibrillar destruction in the muscle biopsy and vacuolized cytoplasm in the Schwann cells. Cytochemically, the patient's myotubes stained very intensely for acid phosphatases. The increased acid phosphatase activity was quantitatively confirmed by cytophotometric evaluation performed on patient and control parallel myotubes. This is the first evidence that an increase in acid phosphatases has been quantitatively demonstrated in cultured muscle from a patient with acute infantile onset acid maltase deficiency (Pompe's disease) although the enzymatic activity was assayed at only one time of incubation.

Cells, Cultured↗
PubMedDate not supplied

Immunoglobulin-related (AL) amyloidosis.

The amyloid fibril is the unique component of amyloid substances. Some amyloid fibrils (i.e. AL amyloid) are made up by homogeneous immunoglobulin light chains, and such fibrils are related to systemic and localized primary amyloidosis and amyloidosis associated with myelomatosis and Waldenstrøm's macroglobulinaemia. More lambda than kappa light chain proteins make up the amyloid in these cases, and it appears that lambda-chains are more prone to fibril formation than kappa-chains. Immunoglobulins are thus the precursor protein for AL amyloid, which shows that primary amyloidosis belongs to the plasma cell dyscrasias. Amyloid infiltration of the heart and the kidneys accounts for the most severe clinical consequences of AL amyloidosis. In addition, peripheral neuropathy, carpal tunnel syndrome, macroglossia, skin affections, amyloid arthropathy and autonomic disturbances (i.e. orthostatic hypotension) are characteristic features of the disease. Involvement of parenchymal organs (kidneys, liver, spleen, gastrointestinal tract and endocrine glands) are common to systemic AL amyloidosis and secondary amyloidosis. As protein AA is the major fibril constituent of secondary amyloid, this form of amyloid disease is not related to immunoglobulins. Like other forms of plasma cell dyscrasia, patients with AL amyloidosis are usually treated with cytotoxic drugs and corticosteroids, however, the prognosis is very poor with a reported survival time after diagnosis of less than two years.

Amyloid↗