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At a glance

It is a very rare disorder inherited as an autosomal recessive pattern and characterized by the absence or severe digital phalanges abnormalities of the fingers and toes, renal defects, and cerebral malformations, particularly ventricles dilatation, raised intracranial pressure, and prolonged seizures. Affected individuals present profound intellectual disabilities.

Synonyms

Eronen Somer Gustafsson Syndrome; Digitoreno­cerebral (DRC) Syndrome.

History

This medical condition was first described by M. Eronen in 1985.

Incidence

The incidence remains unknown. Fewer than a dozen case reports since its first description by Eronen in 1985.

Genetic inheritance

Autosomal recessive trait with variable clinical expression.

Pathophysiology

Unknown.

Diagnosis

Mainly based on clinical features, neurologic studies (CT and/or MRI scan of the brain, electroencephalogram, auditory and brainstem evoked potentials), urologic imaging (ultrasonography examination, intravenous pyelogram), and radiographs of the hands and feet.

Clinical aspects

Absent distal phalanges with dysplastic or absent nails of all fingers and toes are constant features of this syndrome and result in brachydactyly. Renal manifestations are variable and may include unilateral agenesis, cystic dysplasia, or double kidney with two ureters and two renal arteries. Facial features are a high and sloping forehead, wide nasal bridge, short nose with full tip and wide base, low-set ears, high arched palate, and gingival hyperplasia. Neurologic manifestations are variable but always severe: microcephaly, cerebral atrophy, dilated cerebral ventricles, Dandy-Walker malformation, severe seizures, muscular hypotonia, and blindness with optic nerve atrophy. Respiratory distress, heart murmurs, and cyanosis have been described in some patients, with further examination leading to the diagnosis of atelectases, patent ductus arteriosus, small ventriculoseptal defect, or open foramen ovale. Profound mental retardation is a permanent feature. The majority of patients die in infancy, with very few surviving beyond age 2 years. Increased levels of plasma and urinary 2-oxoglutarate are common findings.

Precautions before anesthesia

Obtain full assessment of the neurologic status and check for the presence of increased intracranial pressure. Evaluate the efficacy and eventual toxicity of antiepileptic treatment and the degree of muscular hypotonia. Renal function is usually adequate, but blood electrolytes and creatinine levels should be obtained.

Anesthetic considerations

Because of the high arched palate and gingival hypertrophy, intubation may be challenging. The increased risk of aspiration warrants a rapid-sequence induction. In the presence of hypotonia, avoidance of succinylcholine (because of potential severe hyperkalemia) is recommended. Instead, use of a nondepolarizing muscle relaxant with a rapid onset of action is preferred (eg, rocuronium). In the presence of increased intracranial pressure, intravenous lidocaine on induction may help decrease systemic hypertension associated with laryngoscopy. Mild hyperventilation lowers the intracranial pressure, and a 10- to 30-degree head-up ...

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