Coarse face, microcephaly, mental retardation, and epilepsy.
Only two sibs of nonconsanguineous parents have been described.
Inheritance was suspected to be autosomal recessive.
First described by the Italian physician A. Battaglia and colleagues in 1995.
Based on the clinical findings.
A brother and sister presented with microcephaly, moderate to severe mental retardation, absent expressive language skills, and generalized tonic-clonic seizures, which were refractory to medical treatment in the brother, but satisfactorily controlled in the sister with valproic acid monotherapy. In addition, both individuals had hirsutism, (kypho-) scoliosis, pectus excavatum, diffuse muscular hypotonia, lax ligaments, delayed bone age and bilateral genua valga and pedes plani. The facial appearance was described as “coarse” with prominent ears and eyebrows, broad nose with thickened septum and alae nasi, short philtrum, large open mouth with thick lower lip, and dental malocclusion.
Precautions before anesthesia
In the presence of severe kyphoscoliosis and pectus excavatum, an echocardiogram might be justified to exclude pulmonary hypertension. Developmental delay may cause agitation and stress in the perioperative period; thus, anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible.
The antiepileptic therapy should be optimized and may require preoperative adjustment. Drug interactions are common with certain antiseizure medications. Severe (kypho-) scoliosis and pectus excavatum can result in difficult endotracheal intubation, restrictive lung disease, and cor pulmonale, which may require an adapted anesthesia approach.
Chronic antiseizure treatment may interfere with the metabolism and elimination of other drugs that share the same metabolic pathways. Valproic acid treatment may result in a complex coagulopathy, but it is controversial if the medication should be reduced/stopped/replaced before surgery, particularly if the patient’s seizures are well controlled with it. The decision should be based on the planned type of anesthesia (regional vs. general) and surgical procedure. Valproic acid may also result in hepatotoxicity, thus liver function should be assessed and other potentially liver toxic drugs avoided.
Other condition to be considered
☞Coffin-Lowry Syndrome (Coffin-Siris-Wegienka Syndrome [do not confuse with ☞Coffin Siris Syndrome, which is a different medical condition]; Soft Hands Syndrome): X-linked, semi-dominant inherited disorder with mental retardation, osteocartilaginous abnormalities, and peculiar facies.
et al: New autosomal recessive syndrome of mental ...