A very rare disorder characterized by the association
of obesity, mental retardation, seizures, deafness, microgenitalism, and
X-Linked Hypogonadism Gynecomastia Mental Retardation.
X-linked, recessive. This medical condition is
known to affect only males.
X-linked mode of inheritance, distinctive facies,
normal-size hands and feet, and gynecomastia are the main characteristics of
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).
Evaluate carefully the airway
(clinical, radiographs) and neurological function (clinical, EEG).
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 a real challenge. Regional anesthesia can help decrease opioid
However, regional anesthesia can be difficult to perform because of the presence
of skeletal deformities and significant obesity. It may also be dangerous in patients
with segmental anomaly.
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 (e.g., enflurane,
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 confirmed.
Neuromuscular blocking agents doses must be used carefully because the muscle mass
can be significantly reduced in these patients.
Juberg-Marsidi Syndrome: An extremely
rare X-linked inherited disorder that affects males and is apparent at birth
or during the neonatal period. Severe mental retardation and motor
development (e.g., 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.
Börjeson-Forssman-Lehmann Syndrome: An
extremely rare inherited disorder characterized by unusual facial features,
mental retardation, seizures, short stature, muscle weakness, hypotonia,
and/or hypogonadism. Mental retardation may be mild to severe. Other
clinical features include microcephaly, prominent supraorbital ridges,
ptosis, unusually deep-set eyes, and/or a short neck. An X-linked dominant
or recessive genetic trait has been suggested. Although it is fully
expressed in males only, heterozygote females may present some of the