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At least 703 records · Page 39Linked to original sources
PubMed1998

The anaesthetic management of a case of Kawasaki's disease (mucocutaneous lymph node syndrome) and Beckwith-Weidemann syndrome presenting with a bleeding tongue.

An unusual case of a 13-month-old child with Kawasaki's disease and the Beckwith-Weidemann syndrome is presented. The child, while anticoagulated with warfarin and aspirin to prevent extension of a coronary artery thrombus, fell and lacerated the tongue resulting in haemorrhage and significant swelling. The ongoing haemorrhage, combined with difficulty in securing venous access resulted in the child becoming shocked. Surgical intervention was required to stem the haemorrhage. The anaesthetic management of a shocked child with a coronary artery aneurysm and thrombosis, a potentially difficult airway and a full stomach is described.

Accidental Falls↗
PubMed2002

Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect.

The glycogen storage diseases (GSD) are a heterogenous group of inherited disorders involving one of the several steps of glycogen synthesis or degradation. Type III GSD, also known as Cori's or Forbe's disease, results from a deficiency of the enzyme, amylo-1,6-glucosidase, which is responsible for the breakdown or debranching of the glycogen molecule during catabolism. As a result of this deficiency, inadequate glycogen breakdown occurs, resulting in hypoglycaemia during periods of fasting or stress, as well as storage of excessive glycogen, predominantly in the liver. Glycogen accumulation in the liver leads to hepatogmegaly and, in some instances, hepatic dysfunction with cirrhosis in the third and fourth decades of life. Additionally, deficiency of the enzyme in skeletal and cardiac muscle can lead to skeletal muscle weakness and cardiomyopathy. We present a 28-month-old girl who presented for anaesthetic care for cardiopulmonary bypass and closure of an atrial septal defect. The potential perioperative implications of GSD type III are discussed.

Anesthesia↗
PubMed1979

Stridor in pediatric patients.

We have presented a classification scheme to help in evaluating the diagnosis of stridor in the pediatric patient. The correct diagnosis can usually be arrived at on the basis of a careful and complete history, physical examination, appropriate radiographic studies and bronchoscopy. The anesthesiologist should be aware of the problems associated with all these conditions. In every instance prompt establishment of an adequate airway is imperative.

Abscess↗
PubMed2001

Angiodysplasia with osteohypertrophy affecting the oromaxillofacial area: clinical findings.

The authors report a case of oro-facial port-wine stain angiomatosis with cutaneous and mucosal lesions localized in the first and the second branch surface distribution areas of the right trigeminal nerve in association with right upper and lower lip, cheek, and hemimaxillary true hypertrophy leading to a severe dento-skeletal malocclusion with openbite and facial asymmetry. The authors through a revision of the Bibliography locate nosologically this case among the rare congenital angiodysplastic syndromes affecting the maxillo-facial district as the Sturge-Weber and the Klippel-Trenaunay syndromes. They debate also about etiopathogenetic, clinical, differential diagnosis, and therapeutic aspects concerning the treatment of patients affected by this kind of malformation.

Adult↗
PubMed1995

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature.

Acid maltase deficiency (AMD) is a rare cause of muscle disease in adult patients. The present report of 2 sibs and review of 36 previously reported cases illustrates the vast clinical variability in adult-onset AMD. This is 1 of only 3 reports to document tongue weakness and enlargement in an adult with AMD. The presenting signs and symptoms usually include progressive limb weakness, restrictive lung disease, or both. Consistent supportive abnormalities include a modest elevation in serum CK, a reduction in the forced vital capacity, and abnormal spontaneous activity (that is, myotonic discharges or fibrillations) in resting muscles during needle electromyography. The clinical spectrum is also extended to include distal limb weakness, scapular winging, asymmetric muscle weakness, and tongue involvement.

Female↗
PubMed1989

Growth, bone maturation and pubertal development in children with the EMG-syndrome.

In 7 patients (5 girls, 2 boys) with the EMG or Wiedemann-Beckwith syndrome, statural growth, bone age (BA), weight and pubertal development were studied longitudinally. Height was above the 90th percentile (%) for chronological age (CA) after age 2 years, reaching an average of 2.5 SD above the mean at or after puberty. Adult or attained height also exceeded significantly (P less than 0.015) parental (genetic) target height by 13.2 cm on the average. In one girl, adult height prognosis (190 cm) could be reduced to an adult height of 183 cm by high-dose estrogen treatment. In most children, growth velocity remained above the 90th % up to 4-6 years of age and normalized thereafter. In all patients studied, bone age was markedly advanced and particularly so during the first 4 years after birth. Weight was above the 90th-97th % during infancy and early childhood and remained there, appropriate or slightly subnormal for height, until adulthood, except for 3 girls who reached and maintained the 50th % during or after puberty. Spontaneous pubertal development occurred within normal limits for CA and around the 50th % for BA. Except for the marked bone age acceleration, the reason for the increased statural growth and adult height in patients with the EMG syndrome is still unknown.

Adolescent↗
PubMed1991

Castillo-Morales' orofacial therapy: treatment of 67 children with Down syndrome.

Infants with Down syndrome often present with a typical orofacial disorder, the features of which include hypotonicity of the perioral muscles, lips and chewing muscles, and a protruding tongue, later followed by active tongue protrusion, as well as problems with sucking, drooling, etc. This study presents the effects of Castillo-Morales' therapy with 67 Down syndrome children (average age at start of therapy 13.9 months), who wore the palatal plate intermittently for an average of 12.1 months. Significant positive results were obtained in spontaneous tongue position, upper and lower lip tonicity and position, mouth closure, drooling and sucking.

Child↗
PubMed1991

Gingival biopsy in diagnosis of inborn storage diseases: a case of aspartylglycosaminuria.

The case described is that of a 9-yr-old girl presenting with aspartylglycosaminuria. Diagnosis of this lysosomal storage disease was guided by histologic study of gingival specimen sampled in the course of dental care. Transmitted electron microscopy (TEM) revealed many vesicles and cellular inclusions, altered collagenic formations, associated with abnormal extracellular matrix. Gingival biopsy is easily performed, is noniatrogenic, leaves nor scar, and could be properly used to help diagnose metabolic diseases in children.

Acetylglucosamine↗
PubMed1997

Angioedema and swellings of the orofacial region.

OBJECTIVE: Patients may have various forms of angioedema and require dental treatment which can cause or contribute to the onset of an episode of angioedema. This paper seeks to highlight the causes and the management of this serious condition. DESIGN: An outline of the different types of angioedema is given here, along with three case reports which illustrate treatment and management. SUBJECTS AND METHODS: Three patients who presented to an Oral Medicine clinic with angioedema are presented to illustrate various types of angioedema and the different contributing factors that precipitated episodes of the condition. MAIN OUTCOME MEASURES: The three patients were all investigated for biochemical and allergic factors which may have caused their disease. RESULTS: Both drugs and dental materials were shown to be involved in the pathogenesis of angioedema in this short series of patients. CONCLUSIONS: Dental treatment or the use of some materials may promote or contribute to the disorder. Referral to hospital for specialist care is indicated for certain groups of patients who require invasive dental treatment. The multi-disciplinary team approach in the investigation and management of patients with angioedema is emphasised.

Aged↗
PubMed1980

Excretion of polyamines by children with Beckwith's syndrome.

The urinary excretion of the polyamines--putrescine, spermidine, and spermine--was measured in 7 children with Beckwith's syndrome. Putrescine excretion was raised and spermidine excretion reduced. The raised putrescine and the low spermidine ratios were highly significant. These results are consistent with a disturbance in a metabolic pathway under growth hormone-like regulation.

Child↗
PubMed1998

A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.

Simpson-Golabi-Behmel syndrome (SGBS) is an X linked disorder characterised by pre- and postnatal overgrowth, coarse facial features, and visceral and skeletal abnormalities. Like other overgrowth syndromes, in the SGBS there is an increased risk for developing neoplasia, mainly embryonic, such as Wilms tumour. We report a 3 year old male patient with SGBS and hepatocellular carcinoma, a previously undescribed tumour associated with the syndrome.

Carcinoma, Hepatocellular↗