Very rare disorder characterized by severe digital,
renal, and cerebral malformations.
Eronen Somer Gustafsson Syndrome; Digitorenocerebral
Unknown. Fewer than a dozen case reports since its first
description by Eronen in 1985.
Autosomal recessive with variable clinical
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.
Absent distal phalanges with dysplastic or absent
nails of all fingers and toes are a constant feature 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.
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.
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 (e.g., 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 position improves cerebral venous drainage.
In the presence of a seizure
disorder, avoid potentially epileptogenic drugs such as methohexital,
ketamine, enflurane, atracurium, cis-atracurium, and meperidine (applies to the
latter three only if given in large quantities because of their metabolites,
laudanosine and normeperidine, respectively). Cautious titration of
nondepolarizing muscle relaxants (under control of nerve stimulator) is
required in the presence of muscular hypotonia (increased sensitivity to
their effects). If renal function is decreased, adjustment of drugs with
predominantly renal elimination (e.g., some muscle relaxants and
antibiotics) may be required.
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome: Presumed
genetic disorder causing short stature, hand abnormalities, and mild ...