Rare disorder characterized by developmental delay,
ataxia, dysmorphic facial features, and seizures associated with a happy,
Angelman Syndrome; Puppet Children; Puppet-Like Syndrome;
Syndrome du Pantin Hilare (French).
Genetic or sporadic disease first described by Harry
Angelman in 1965.
1:12,000-20,000 live births.
Some cases are transmitted as an autosomal
Caused by a gene encoding ubiquitin-protein ligase
(UBE3A) located on 15q11-13.
Onset between 3 and 7 years of age. The affected
children have a happy disposition and laugh frequently for almost any
reason. Movements are jerky, like those of a marionette or puppet. Seizures
are present in 96% of cases with a characteristic EEG.
Features include neurologic disorders (jerky movements caused by
ataxia associated with hypertonia, brisk tendon reflexes, hyperreflexia,
hyperkinesia, hypsarrhythmia, epilepsy, cerebral atrophy/myelin abnormality
at MRI), craniofacial malformations (brachycephaly with occipital flattening, microcephaly,
prognathism, macrostomia, oligodontia, protruding tongue, open mouth, widely
spaced teeth, deficient pigmentation of the choroid with optic pallor and
characteristic blue irides and Brushfield spots), and skin (hypopigmentation,
blond hair). Associated with happy disposition, children present with
hyperactivity, restlessness, absent speech, sleeping disorders, feeding
problems, and drooling. Thoracic scoliosis can be observed.
Evaluate tracheal intubation because
of skull anomalies (clinical, radiographs). Evaluate neurologic function
(clinical, CT, MRI, EEG, epileptic treatment efficiency).
Cooperation is impossible to obtain and
often makes anesthetic induction difficult. Tracheal intubation can be
difficult and may require adapted anesthetic management.
Consider interaction between
antiepileptic treatment and anesthetic drugs. Muscle relaxants should be
avoided until airway is secure.
Allan-Herndon Syndrome: Although most neonates and infants with
this disorder appear to develop normally in the first few months of life,
the presence of poor muscle tone is most often already present at birth. By
6 months of age, hypotonia, inability to hold up the head, and severe muscle
atrophy are detectable. Severe mental retardation is associated with
multiple congenital anomalies.
Fragile X Syndrome: Most common form of X-linked mental
retardation that affects males more often and more severely than females.
Only subtle dysmorphic features, but behavioral issues may be more
Juberg-Marsidi Syndrome: X-linked recessive inherited syndrome
characterized by severe mental retardation, deafness, failure to thrive,
microgenitalism, and early death.
MASA Syndrome (Mental retardation, Aphasia,
Shuffling gait, Adducted Thumbs Syndrome):
Extremely rare inherited
disorder that is one of several disorders known as X-linked mental
Renpenning Syndrome: Extremely rare form of
X-linked (moderate-to-severe) mental retardation. It has been linked to
Xp11.2-p11.4. Other findings may include short stature, moderate
microcephaly, prognathism, and small testes. Affected patients may use
repetitive speech and show aggressive behavior. Longevity seems not to be
impaired, and female carriers do not show any heterozygous signs.
Sutherland-Haan Syndrome (Sutherland-Haan X-Linked Mental
Retardation Syndrome; X-Linked Mental Retardation with Spastic ...