Biemond Syndrome Type II

At a glance

An inherited disorder with mental delay and anomalies of the eyes, genitals, and extremities.

Synonym

Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome

Incidence

An extremely rare syndrome.

Genetic inheritance

Both autosomal recessive and dominant inheritance have been suggested, although the former mode is favored.

Clinical aspects

The symptoms of this disorder are somewhat controversial, since the more recent definition and the original description vary quite a bit. In addition, some experts consider this disorder to be a variant of ☞Bardet-Biedl Syndrome. In Biemond’s original report, the two affected siblings (a girl and a boy), born to alcoholic parents, showed coloboma, small sella turcica, and hypogonadism, but obesity and mental retardation were absent. The girl who died suddenly had a brain tumor, syringomyelia, polyposis coli, and preaxial polydactyly. The more recent description of this syndrome include mild-to-moderate mental retardation, iris and/or retinal colobomata or “partial aniridia,” microphthalmia, cataract, nystagmus, truncal obesity, short stature, preaxial polydactyly, and (particularly male) hypogonadism (micropenis, small testes). Mild facial dysmorphism features may include high forehead, deep nasal bridge, flat and small or beaked and large nose, and posteriorly angulated ears with prominent ear lobes. Occasionally, hydrocephalus, arachnoid cysts, corneal clouding, partially absent incisor teeth, scoliosis, cryptorchidism, and hypospadias are found.

Precautions before anesthesia

Increased intracranial pressure (ICP) should be ruled out, otherwise routine preoperative assessment. Developmental delay may cause agitation and stress in the perioperative period; thus, judicious anxiolytic and sedative premedication (potentially increased ICP) and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. Inquire about symptoms of obstructive sleep apnea.

Anesthetic considerations

No reports exist about this syndrome in the context of anesthesia. Other than management of adipositas and potentially increased ICP (ie, maintain adequate cerebral perfusion pressure and avoid hypoxia, hypercapnia, hyperthermia, seizures, and drugs that increase cerebral blood flow), no other anesthetic problems should arise that are specific to this syndrome. If adipositas is significant, a rapid sequence induction may be considered.

Pharmacological implications

None specific to this syndrome. Avoid drugs that increase cerebral blood flow and/or decrease cerebral perfusion pressure in the presence of increased ICP.

Other conditions to be considered

• Biemond Syndrome Type I (Brachydactyly-Nystagmus Cerebellar Ataxia Syndrome): There is some confusion with regards to this disorder as the literature is not always entirely clear in the distinction between Biemond Syndrome Type I and Biemond Ataxia (with the former being extremely rare). In 1934, Biemond described a 58-year-old woman suffering from severe cerebellar ataxia with unsteady, broad-based gait, mild dysdiadochokinesia, and dysmetria that started about 4 years earlier. She also reported a change ...