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At a glance

A very rare disorder characterized by the association of obesity, mental retardation, seizures, deafness, microgenitalism, and short stature.

Synonyms

X-Linked Hypogonadism Gynecomastia Mental Retardation; Xq27.3-q28 Microduplication Syndrome.

Genetic inheritance

X-linked, recessive. Xq27.3q28 interstitial duplication encompassing the FMR1 and AFF2 genes but not the MECP2 gene. This medical condition is known to affect only males.

Pathophysiology

Unknown.

Diagnosis

X-linked mode of inheritance, distinctive facies, normal-size hands and feet, and gynecomastia are the main characteristics of this syndrome.

Clinical aspects

Patients present with short stature, generalized obesity, hypotonia, mental retardation, abnormal cry, and seizures. Clinical features can include various anomalies, including craniofacial (narrow forehead, up-slanted fissures, brachycephaly, microphthalmia, narrow palate, bifid uvula), orthopedic (kyphoscoliosis, camptodactyly, genu valgum, proximally set thumb, ulna deviation of fingers, clinodactyly of fifth finger, vertebral segmentation anomaly, increased carrying angle of the elbows), and genitourinary (atrophic and ectopic testes, micropenis, hypogonadism, and gynecomastia). Carrier females present with a short stature and early menopause.

Precautions before anesthesia

Evaluate carefully the airway (clinical, radiographs) and neurological function (clinical, EEG).

Anesthetic considerations

Cautious intraoperative positioning is necessary but difficult because of spine deformities and obesity. Direct laryngoscopy and tracheal intubation can be difficult because of obesity and craniofacial anomalies and may require fiberoptic or retrograde intubation; laryngeal mask airway can be useful and should be available at the time of induction of anesthesia. Venous access (both central and peripheral) can be challenging. Regional anesthesia can be difficult to perform because of the presence of skeletal deformities and significant obesity.

Pharmacological implications

The use of anesthetic medications allowing the maintenance of spontaneous ventilation is highly recommended until the trachea is secured and lung ventilation is confirmed. Antiepileptic medications must be continued until the morning of the surgical procedure. Anesthetic agents prone to increase seizure activities (sevoflurane) must be used with caution. The use of sedative premedication must be considered. Muscle relaxants are not contraindicated; however, it is recommended to limit their use once the trachea is intubated and ventilation is confirmed. Neuromuscular blocking agents must be monitored carefully because the muscle mass can be significantly reduced in these patients.

Other conditions to be considered

  • Juberg-Marsidi Syndrome: Extremely rare X-linked inherited disorder that affects males and is apparent at birth or during the neonatal period. Part of family of X-Linked Intellectual Disability (XLID) Syndromes. Severe mental retardation and motor development (eg, crawling, walking), hypotonia, delayed bone growth, and severe failure to thrive are the main characteristics of this disorder. Other features include deafness, microgenitalism, craniofacial anomalies, severe microcephaly, a depressed nasal bridge, and ocular abnormalities.

  • Borjeson-Forssman-Lehmann Syndrome: Extremely ...

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