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PubMedDate not supplied

Two interesting cases of transient neonatal diabetes mellitus.

Two cases of transient neonatal diabetes mellitus associated with anemia, macroglossia and umbilical hernia were studied in relation to the possible etiologies that have been postulated to be responsible for this syndrome. Both patients required insulin therapy for the control of their hyperglycemia but case number two needed to be treated for 14 months before glucose normalization occurred. This patient developed classical insulin dependent diabetes mellitus during our follow-up; the HLA typing showed DR4 allele.

Blood Glucose↗
PubMedDate not supplied

Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6.

We report a male infant with transient neonatal diabetes mellitus (TNDM; MIM 601410), macroglossia, hypertelorism, umbilical hernia, inguinoscrotal hernia and onychomycosis. Diabetes mellitus was diagnosed 10 days after birth and resolved after 6.5 months of treatment. Genetic investigation indicated the presence of paternal uniparental disomy of chromosome 6 (UPD 6). The finding of paternal UPD 6 allows prediction of a transient, rather than permanent NDM, and no increased recurrence risk of TNDM in subsequent pregnancies. Therefore, finding of NDM should be a strong indicator for genetic testing.

Blood Glucose↗
PubMedDate not supplied

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6.

We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.

DNA↗
PubMed1989

Prenatal diagnosis of Wiedemann-Beckwith syndrome.

We report the prenatal diagnosis of Wiedemann-Beckwith syndrome in the 28th week of pregnancy in a primigravida. The cause of hospitalization was severe polyhydramnios with premature labour. Sonography revealed macrosomia, nephromegaly, cysts of adrenal glands and a striking macroglossia with opened mouth in all controls. The combination of all these symptoms suggested the prenatal diagnosis of Wiedemann-Beckwith syndrome, which could be confirmed post partum after a normal delivery in the 33rd week of pregnancy. The newborn (2700 g, 48 cm) exhibited typical features of this syndrome as moderate hypoglycemia and polycythemia in addition to the sonographic finding. Pathogenetic aspects and differential diagnosis of macrosomia are discussed.

Adult↗
PubMed2000

Novel approaches to the treatment of primary amyloidosis.

Primary (AL, amyloid light-chain) amyloidosis is a plasma cell disorder in which deposits of amyloid light-chain protein cause progressive organ failure. It is important to recognise that amyloidosis is a dynamic process and chemotherapy-induced reduction of the activity of the plasma cell clone reduces the supply of the amyloid precursor protein and can result in a major regression of the deposits. The most common target organ is the kidney and renal amyloidosis manifests as proteinuria or nephrotic syndrome. Proteinuria is seen in three quarters of patients. Amyloid related nephrotic syndrome and renal failure are potentially reversible. Fatigue, congestive heart failure, hepatomegaly, peripheral neuropathy, orthostatic hypotension, carpal tunnel syndrome and macroglossia are other common features. The median survival is one to two years. Conventional-dose melphalan as standard treatment can prolong the median duration of survival by about ten months, but the clinical response rates with improvement of impaired organ function are low. Up-front high-dose chemotherapy with autologous peripheral blood stem cell transplantation is much more effective and can result in a major improvement in the clinical condition of patients. However, the toxicity related to this treatment can be relevant due to impaired organ function. Conventional-dose chemotherapy consisting of vincristine, doxorubicin and dexamethasone or high-dose dexamethasone or interferon-alpha are other possible approaches to treatment. The improvement of patient condition with an effective conventional-dose chemotherapy may increase the tolerability of high-dose chemotherapy and reduce transplantation related problems.

Amyloidosis↗
PubMed2000

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6.

OBJECTIVES: The factors determining the pathogenesis of transient and permanent neonatal diabetes mellitus are poorly characterized. The purpose of this study was to examine the role of chromosome 6 in the pathogenesis of neonatal diabetes mellitus and to detect differences between these 2 phenotypes. METHODS: Microsatellite markers (D6S334, D6S286, D6S310, D6S308, D6S292, D6S311, and D6S403) and human leukocyte antigen DQ alleles were examined using polymerase chain reaction and DNA fragment electrophoresis in 3 patients with transient and 3 patients with permanent neonatal diabetes mellitus. Humoral markers of islet cell autoimmunity and clinical characteristics were analyzed in the 2 groups. RESULTS: A patient with transient neonatal diabetes mellitus (TND) and macroglossia carrying paternal uniparental isodisomy (UPD) of chromosome 6 has been identified. The isodisomy affected the whole chromosome; no maternal chromosome 6 sequences were detected. The permanent neonatal diabetes mellitus cases and the other 2 cases with TND did not have UPD. None of the patients had high-risk type 1 diabetes human leukocyte antigen DQ alleles and most infants were negative for islet cell-specific autoantibodies indicating that none of the 2 forms of neonatal diabetes mellitus is likely to be of autoimmune origin. An association of TND and persistent granulocytopenia is described for the first time. CONCLUSIONS: We propose that transient and permanent forms of neonatal diabetes mellitus have different genetic background and represent different disease entities. TND is associated with UPD of chromosome 6 suggesting that an imprinted gene on chromosome 6 is responsible for this phenotype. It seems that 2 copies of the paternal allele are necessary for the development of TND; therefore, it is likely that overexpression of a putative gene located on chromosome 6 alters pancreatic beta-cell maturation and insulin secretion.

Chromosomes, Human, Pair 6↗
PubMed1981

Leopard syndrome, a neural crest disorder: a case report.

A case of Leopard syndrome with full clinical expression is reported. In addition to the cardinal signs of the syndrome this patient presented some abnormalities which have not been previously described such as macroglossia, multiple dental anomalies, basilar impression and platybasia, megacolon, hypertrophy of clitoris and anal ectopy. The presence of dental anomalies and megacolon may represent involvement of the dental papillae and myenteric plexus favoring the view that the syndrome results from a derangement of the neural crest elements.

Abnormalities, Multiple↗
PubMed2001

Amyloidotic muscle pseudohypertrophy: case report.

The authors report one case of amyloidosis associated with muscular pseudohypertrophy in a 46-year-old woman, who developed weakness, macroglossia and muscle hypertrophy associated with primary systemic amyloidosis. Electromyography showed a myopathic pattern and bilateral carpal tunnel syndrome. The muscle biopsy presented with a type I and II fiber hypertrophy and infiltration of amyloid material in the interstitious space and artery walls. She underwent bone marrow transplantation with stabilization and subjective improvement of the clinical picture.

Amyloidosis↗
PubMed2005

Clinical presentation of primary congenital hypothyroidism: experience before mass screening.

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.

Congenital Hypothyroidism↗
PubMed2000

Glossoptosis (posterior displacement of the tongue) during sleep: a frequent cause of sleep apnea in pediatric patients referred for dynamic sleep fluoroscopy.

OBJECTIVE: The purpose of this study was to evaluate the frequency of glossoptosis (posterior displacement of the tongue) as a cause of sleep apnea in pediatric patients referred for fluoroscopic sleep studies. MATERIALS AND METHODS: Seventy consecutive dynamic fluoroscopic sleep studies performed to evaluate sleep apnea were reviewed. All patients had been sedated and examined with lateral fluoroscopy during sleep. Anatomic changes in the airway were correlated with episodes of oxygen desaturation. Cases of glossoptosis, in which the tongue moved posteriorly during sleep and abutted the posterior pharynx, resulting in airway obstruction and oxygen desaturation, were identified. Associated factors were reviewed. RESULTS: Of 70 sleep studies reviewed, glossoptosis was the cause of airway obstruction in 17 patients (24%). Mean age in these 17 patients was 3 years (range, 5 days to 13 years). Seven of the 17 children were younger than 1 year old. Only three patients had no underlying medical problems. Four patients had macroglossia (Down syndrome, n = 3; duplicated tongue, n = 1) as a cause, and three patients had micro- or retrognathia (Pierre Robin syndrome, n = 2; Rubinstein-Taybi syndrome, n =1) as a cause. Six patients had neuromuscular abnormalities. CONCLUSION: Glossoptosis was a cause of airway obstruction in 25% of pediatric patients referred for fluoroscopic sleep studies. Attention to this anatomic region is important when evaluating children with sleep apnea.

Airway Obstruction↗
PubMed2000

Pyogenic granuloma of the tongue early after allogeneic bone marrow transplantation for multiple myeloma.

Oral complications occur frequently after bone marrow transplantation (BMT). Some of them are caused by regimen-related toxicity of the preparative regimen, and others by infections. In addition, oral tissues are targets of graft-versus-host disease (GVHD). Oral granulomatous lesions are not a common complication after BMT, and are especially rare on the tongue. Such rare lesions reported in the literature, developed late after BMT with oral chronic GVHD. We present here a patient who developed pyogenic granuloma of the tongue early after allogeneic BMT done for multiple myeloma. Regimen-related mucositis, oral acute GVHD, the administration of cyclosporine A, and the preexisting macroglossia might be responsible for the formation of granuloma.

Bone Marrow Transplantation↗
PubMed1994

Chronic myelomonocytic leukemia associated with primary amyloidosis.

A case of chronic myelomonocytic leukemia (CMML) associated with primary amyloidosis (AL) is presented. Hepatosplenomegaly, macroglossia, and xanthelasma were the major physical findings. Laboratory tests showed macrocytic anemia, thrombocytopenia, monocytosis and a bi-clonal gammopathy. Early monocytes and monoblasts were noted in the bone marrow aspiration biopsy. Cytogenetic evaluation showed a clonal deletion of chromosome 21 long arm (21q-). Amyloid was present in the liver, tongue and xanthelasma. In addition, the patient was noted to have osteosclerosis of the lower extremities. Treatment with prednisone and colchicine resulted in a subjective response. The unusual association of CMML, and primary amyloidosis is discussed.

Adult↗
PubMed1985

Focal giant cell cardiomyopathy with Beckwith-Wiedemann syndrome.

Cardiac involvement in Beckwith-Wiedemann syndrome is mostly limited to mild cardiomegaly. Although these patients have visceromegaly, macroglossia, gigantism, and adrenal cytomegaly, no significant myocardial changes have been described. An infant with dysmorphic features of this syndrome had supraventricular tachycardia since birth. Nodular lesions were present in the right atrium. Morphologically these lesions were composed of hypertrophic myocardial fibers admixed with multinucleated giant cells of myogenic origin. The exact nature of these lesions remains undetermined. It is postulated that hypertrophic myocardial cells may represent cardiac cytomegaly as a manifestation of the accelerated growth potential of cells seen with this syndrome.

Beckwith-Wiedemann Syndrome↗
PubMed1988

Congenital pancreatoblastoma in Beckwith-Wiedemann syndrome: an emerging association.

We present a male newborn (weight 4000 g) who died at age 12 days with a clinical history of persistent hypoglycemia and polycythemia. Clinical examination disclosed somatic hemihypertrophy (left side), a large umbilical hernia, macroglossia, and an intraabdominal tumor, consistent with the diagnosis of Beckwith-Wiedemann syndrome (EMG syndrome) and hemihypertrophy. Necropsy findings included visceromegaly (left kidney and adrenal), cytomegaly of the fetal cortex and nodular arrangement of both adrenals, diffuse nesidioblastosis and islet cell hyperplasia of the pancreas, and persistent glomerulogenesis. The tumor was a cystic pancreatoblastoma attached to the anterior surface of the pancreas. Three other examples of this association, congenital pancreatoblastoma and Beckwith-Wiedemann syndrome, all in males, are on record in the literature, indicating a strong relationship between both conditions.

Beckwith-Wiedemann Syndrome↗
PubMedDate not supplied

Hepatic hemangioendotheliomas, placental chorioangiomas, and dysmorphic kidneys in Beckwith-Wiedemann syndrome.

A 4-month-old female, birth weight 3150 g, had a history of maternal eclampsia, multiple placental chorioangiomas, and persistent neonatal hypoglycemia. Macroglossia and enlarged kidneys were recorded. Autopsy revealed multiple hepatic hemangioendotheliomas (type 1), massive cardiomegaly, and bilateral nephromegaly. Both kidneys were lobulated with active glomerulogenesis and clusters of immature tubules and foci of dysplastic medullary ducts. The features suggest that the nephrogenesis was secondary to the persistence of actively branching nephron-inducing ducts. Nodular hyperplasia of the adrenal cortex (adrenoblastomatosis) was present. This report expands the list of tumors to be found in Beckwith-Wiedemann syndrome (BWS).

Adolescent↗
PubMed1993

[A case of primary systemic amyloidosis with skeletal muscle atrophy and congestive heart failure].

A 77-year-old male had been noticing progressive weakness of the legs for three years. By the age of 75 he had difficulty in climbing stairs. On admission, serum level of CPK was moderately high. There were weakness and atrophy of the proximal muscles. Deep tendon reflexes were depressed. Sensation was normal. The electromyogram and the biopsy of the femoral quadriceps muscles showed nonspecific changes. In 1989, he developed difficulty in walking and had congestive heart failure. On the second admission, moist rales were heard over the chest, and pitting edema was present in the lower extremities. The chest roentgenogram showed a cardiothoracic ratio of 63% and bilateral pleural effusion. The electrocardiogram showed atrial flutter with 2:1 conduction, QS in V1-3, rS in V4, and ST depression and T inversion in V5,6. The echocardiogram revealed a thick left ventricular wall and impaired left ventricular contraction (EF 22%). Macroglossia, hepatosplenomegaly and renal dysfunction were not noted. Congestive heart failure progressed and he suddenly died of ventricular tachycardia in December 1989. At autopsy, skeletal muscle fibers varied in size and showed fiber splitting. A cellular infiltration was observed in the stroma. Amyloid deposit was positively stained with Congo red. The heart weight was 570 g with marked left ventricular hypertrophy and moderate bilateral atrial dilatation. In both atria and ventricles, extensive amyloid deposition was found around myocardial fibers as well as in perivascular spaces. Amyloid was present also in the liver, the kidneys, the gastrointestinal tracts, and the other organs.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1996

The transcondylar approach to extradural nonneoplastic lesions of the craniovertebral junction.

Ventral extradural lesions at the craniovertebral junction are commonly exposed through the transoral or transmaxillary approach. The disadvantages of these approaches include: 1) difficulty in reaching laterally located lesions; 2) ineligibility of patients with an intradental distance of less than 25 mm or severe macroglossia; 3) the need for a separate procedure for stabilization and fusion; and 4) the risk of infection from transgressing a contaminated field. In this report, the authors describe the use of the transcondylar approach to extradural nonneoplastic lesions of the anterior craniovertebral junction for decompression and stabilization. Advantages of this approach include: 1) a short distance to the lesion; 2) a wide surgical envelope; 3) direct visualization of the dural sac, eliminating manipulation of the brainstem or upper spinal cord; 4) easy identification and control of the ipsilateral vertebral artery; 5) direct visualization and preservation of the lower cranial nerves; and 6) a sterile field. In addition, occipitocervical fusion and instrumentation can be performed during the same procedure. The transcondylar approach, based on anatomical studies in cadavers, was used to treat eight patients with ventral nonneoplastic lesions at the craniocervical junction. The technique and results are described.

Adolescent↗
PubMed1999

Bilateral sagittal split mandibular osteotomies as an adjunct to the transoral approach to the anterior craniovertebral junction. Technical note.

Transoral approaches are used to expose the craniovertebral junction anteriorly. In patients in whom there is limited mandibular excursion, the placement of retractors and/or surgical instruments is difficult, and midline "stairstep split mandibulotomy" has been advocated as an adjunctive procedure. Although effective, this approach requires external splitting of the lip as well as median glossotomy or a lateral mucosal incision. The purpose of this study was to show that bilateral sagittal split mandibular osteotomies (BSSMOs), which are used in orthognathic surgery, represent a safer and more effective alternative to the stairstep split mandibulotomy when performed as an adjunct to the transoral approach because all incisions are intraoral and the plane of retraction is rostrocaudal instead of lateral. Hospital records and radiographic files of four patients who underwent BSSMO/transoral approach for odontoidectomy between 1994 and 1997 were reviewed retrospectively. There were three women and one boy (mean age 37.8 years, range 11-68 years). Predisposing conditions included rheumatoid arthritis (two patients), Klippel-Feil syndrome (one patient), and congenital occipitocervical instability (one patient). Jaw mobility was limited in all patients. In addition, one patient had macroglossia, another micrognathia, and another retrognathia. The BSSMO provided excellent exposure for resection of the odontoid process, as verified on follow-up magnetic resonance imaging or computerized tomography studies obtained in all patients. All mandibles were rigidly fixed by placing anterior mandibular border titanium plates and unicortical screws, and there was no incidence of nonunion or of lingual or inferior alveolar nerve injuries. The mean follow-up period was 26 months. The BSSMO is an excellent, less invasive adjunct to the transoral approach in patients with limited jaw mobility.

Adolescent↗