Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome. (1/25)

Anesthetic considerations of 21-mo-old and 4-yr-old sisters with Beckwith-Wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.  (+info)

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis. (2/25)

Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. The main clinical signs are cutis laxa, cranial and peripheral neuropathy, and corneal lattice dystrophy but heavy intermittent snoring also occurs. To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation. Four patients had obstructive sleep apnoea syndrome (OSAS) with redundant oropharyngeal and hypopharyngeal soft tissues, macroglossia and cranial neuromuscular dysfunction. The fifth patient had hypersomnia without obstructive sleep apnoea. Nasal continuous positive airway pressure (CPAP) was an effective treatment. This study presents the first evidence in favour of an association between AGel amyloidosis and OSAS, but further studies are needed to define the prevalence of OSAS and the pathogenetic roles of amyloid and variant gelsolin in its evolution.  (+info)

Improvement of amyloid-related symptoms after autologous stem cell transplantation in a patient with hepatomegaly, macroglossia and purpura. (3/25)

AL amyloidosis was diagnosed in a 56-year-old woman with spontaneous purpura, macroglossia and hepatomegaly, a serum IgGk monoclonal gammopathy and a 25% plasma cell bone marrow infiltration. She was started on high-dose treatment consisting of four monthly cycles of VID chemotherapy, then underwent a stem cell collection after priming with cyclophosphamide + G-CSF. Myeloablative therapy was with melphalan and busulfan. Hematologic recovery was fast and uncomplicated. At follow-up 22 months from ASCT, the patient shows a complete remission of the clonal plasma cell disorder, normalization of liver size and alkaline phosphatase level and a significant improvement in the signs of vascular and soft tissue amyloid infiltration.  (+info)

Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. (4/25)

Neonatal diabetes, which can be transient or permanent, is defined as hyperglycemia that presents within the first month of life and requires insulin therapy. Transient neonatal diabetes mellitus has been associated with abnormalities of the paternally inherited copy of chromosome 6, including duplications of a portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imprinted gene in this disorder. To date, all patients with transient neonatal diabetes mellitus and uniparental disomy have had complete paternal isodisomy. We describe a patient with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal uniparental disomy of chromosome 6 involving the distal portion of 6q, from 6q24-qter. This observation demonstrates that mitotic recombination of chromosome 6 can also give rise to uniparental disomy and neonatal diabetes, a situation similar to that observed in Beckwith-Wiedemann syndrome, another imprinted disorder. This finding has clinical implications, since somatic mosaicism for uniparental disomy of chromosome 6 should also be considered in patients with transient neonatal diabetes mellitus.  (+info)

Symptomatic macroglossia and tongue myositis in polymyositis: treatment with corticosteroids and intravenous immunoglobulin. (5/25)

Symptomatic macroglossia occurs in some rare congenital muscle diseases, such as Becker's and Duchenne's dystrophies or Pompe's disease. Herein we describe a case of symptomatic macroglossia with myositis of the tongue occurring in a patient with polymyositis. Tongue myositis was evidenced by dysarthria, frequent biting during mastication, swallowing difficulties without aspiration, and noisy breathing. Magnetic resonance imaging showed homogeneous hypertrophy of the tongue, especially the mouth's floor muscles. The diagnosis of tongue myositis was established by electromyography and biopsy. No other cause for the macroglossia was found. Symptoms resolved quickly with corticosteroid and intravenous immunoglobulin treatment. To our knowledge, this is the first reported case of symptomatic tongue myositis occurring in the course of polymyositis.  (+info)

Peeping through heart's window: a case report of Fallots tetralogy. (6/25)

Tetralogy of Fallot is a congenital heart defect. A combination of four abnormalities in heart allow oxygen rich and oxygen-depleted blood to mix. The resulting low-oxygen blood then circulates through the body. A child with the condition tends to develop slowly, eat poorly and grow slowly and may experience "blue" spells on crying and dyspnea on exertion. A 12 year old child with this congenital heart defect and cleft palate with cleft lip is discussed. Details of the latest diagnostic and treatment procedures are also presented.  (+info)

Oral lymphangioma: a case report. (7/25)

Lymphangiomas are congenital malformations of lymphatic vessels filled with a clear protein-rich fluid containing few lymph cells. It can also occur in association with hemangioma. Large lymphangioma extending into the tissue spaces of neck is referred to as cystic hygroma. Herewith, we present a case of cystic hygroma associated with lymphangioma of tongue leading to macroglossia in a 5-year-old boy.  (+info)

Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and early clinical features. (8/25)

The relationships between biochemical severity of hypothyroidism (as judged by plasma thyroxine) and the clinical and radiographic findings at diagnosis were evaluated in 449 infants born in 1982-4 with congenital hypothyroidism identified by neonatal screening. Details of pregnancy, delivery, and the neonatal period were also examined and compared with the findings in a normal population of 36,727 infants born in 1988. Infants with plasma thyroxine values of 30 nmol/l or less had a significantly higher incidence of prolonged jaundice, feeding difficulties, lethargy, umbilical hernia and macroglossia, showed more severe delay of bone maturation on a knee radiograph, and had a higher proportion of thyroid agenesis on isotope scan. In contrast, an ectopic or hypoplastic gland was more common in infants with plasma thyroxine values above 30 nmol/l. Prevalence of illness in pregnancy and mode of delivery was not related to severity of hypothyroidism and were similar to figures for the normal population. Induction of labour, gestation over 40 weeks, and birth weight above 3500 g were significantly more common in the hypothyroid infants. Perinatal illness and congenital malformations were more common in the infants with low plasma thyroxine values at diagnosis.  (+info)