Wiedemann-Rautenstrauch Syndrome

Characterized by an aged appearance at birth, prenatal and postnatal growth retardation, and subcutaneous lipoatrophy with abnormal deposits of fat around the buttocks, the anogenital area, and the flanks. Characteristic craniofacial abnormalities (frontal and parietal bossing) leading to a pseudohydrocephalus aspect.

Neonatal Progeroid Syndrome; Neonatal Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch; Rautenstrauch-Wiedemann Syndrome.

This medical entity was first described in 1979 by Hans-Rudolf Wiedemann, a German physician and Thomas Rautenstrauch, a German pediatrician, who described two cases of progeria in neonates in 1977.

Autosomal recessive.

Unknown.

Progeroid appearance at birth and during infancy.

Patients have premature aging aspect, short stature and a poorly muscled build. Clinical features can involve the central nervous system (CNS) (psychomotor development deficiency, hypotonia, truncal ataxia, intention tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows, sparse hair, sparse eyebrows, sparse eyelashes, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, natal teeth, and beaking of the nose). Other possible features include congenital heart defect, dysphagia, urinary reflux, generalized lipoatrophy, abnormally placed nipples, arachnodactyly, and restricted joint mobility.

Assessment of airway must be evaluated in view of craniofacial abnormalities (clinical, radiographs, fiberoptic if necessary). Evaluate congenital heart defect (clinical, ECG, echocardiography). Risk of pulmonary aspiration and respiratory tract infections is significant. Ensure adequate hydration.

Possible difficulties with direct laryngoscopy and tracheal intubation. Risk of intracranial hemorrhage. Careful temperature control (general absence of subcutaneous fat) and intraoperative positioning (restricted joint mobility) are needed.

Antibiotic prophylaxis in cases of cardiac defect. Muscle relaxants should be used after airway is secured.

Progeria Syndrome: A very rare disorder of childhood. It is characterized by accelerated premature aging, short stature, and characteristic facial features. Severe cardiopulmonary problems (including myocardial infarction in early age) must be carefully considered. Various orthopedic and orthorhinolaryngological problems are reported.

De Barsy Moens Diercks Syndrome (De Barsy Syndrome; Progeroid Syndrome of De Barsy; Corneal Clouding Cutis Laxa Mental Retardation Syndrome): A rare autosomal recessive disorder. The main characteristics are the severe cutis laxa, athetosis, cloudy corneas of the eyes, large prominent ears, and hypotonia. Other features include hyperextensibility of the joints, frontal bossing, and/or short stature. Significant skin wrinkling.

Werner Syndrome: Premature aging disease that begins in adolescence or early adulthood. With short stature, bilateral cataracts, scleroderma-like skin changes, premature graying or loss of hair and malignancies predisposition. Main risks are atheroma with cardiovascular and neurological complications.

Hallerman-Streiff Syndrome: Characterized by the presence of microcephaly and brachycephaly, frontal bossing, hypoplastic mandible, a “beak-shaped” nose and microstomia. The disorder is also characterized by dwarfism, ocular abnormalities (microphthalmia), congenital cataracts, nystagmus, strabismus, and decreased visual acuity. Dental defects are present. Individuals affected by this disorder typically have a normal intelligence. It is believed to be sporadic, however, in some cases a pattern of autosomal recessive inheritance has been suggested.

Cockayne Syndrome: A very rare genetic disorder characterized by growth retardation, photosensitivity, and progeroid appearance. In the classical form (Type I), the symptoms are progressive and typically become apparent within the first year of life. In Early Onset form (Type II), associated symptoms and physical findings are apparent at birth. Affected individual presents with microcephaly, sunken eyes, malformed ears, and a thin, beaked nose. The loss of subcutaneous fat is characteristic of this syndrome and gives a prematurely aged appearance. Other clinical features include a short stature, progressive loss of vision because of retinal degeneration, neurological degeneration including progressive mental retardation, movement disturbances, deafness, and dementia have been reported. Arteriosclerosis has been suggested as a potential life-threatening complication. It is inherited as an autosomal recessive.