Wiedemann-Rautenstrauch Syndrome

At a glance

This is a medical condition 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. Other clinical features include craniofacial abnormalities (macrocephaly due to frontal and parietal bossing) that lead to a pseudohydrocephalus aspect. Coronary and cerebrovascular atherosclerosis raise significant concerns in such children. Also, these infants have sparse hair, prominent scalp veins, entropion, malar hypoplasia, hypotrichosis, beaked nose, and mild to severe mental retardation. Those affected have been prone to recurrent respiratory infections that have resulted in life-threatening complications. The life expectancy is significantly decreased and death is usually encountered during childhood. There are only few reported individuals who have reached adolescence and even in their 20s.

Synonyms

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

History

This medical entity was first described in 1977 by Hans-Rudolf Wiedemann, a German physician and Thomas Rautenstrauch, a German pediatrician. They observed the signs and symptoms in two cases of neonatal progeria in 1977.

Incidence

This is a very rare medical condition as only 35 cases have been described in the literature to date. The true incidence remains unknown.

Genetic inheritance

It is believed to be inherited as an autosomal recessive trait.

Pathophysiology

Unknown.

Diagnosis

Progeroid appearance at birth and during infancy.

Clinical aspects

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.

Precautions before anesthesia

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.

Anesthetic considerations

Possible difficulties with direct laryngoscopy and tracheal intubation. Coronary and cerebrovascular atherosclerosis pose significant concerns in such children. There is an increased risk of intracranial hemorrhage during induction of anesthesia and special care must be given to prevent this complication. Careful temperature control (general absence of subcutaneous fat) and intraoperative positioning (restricted joint mobility) are needed.