Genetic test leads to correct diagnosis of boy with atypia…

By | June 7, 2023

Despite having few signs and symptoms of Angelman syndrome (AS), a newborn was eventually diagnosed on genetic testing because of his nonspecific developmental delays and unexplained low muscle tone, according to one case study.

This report is a good example of giving physicians a lower threshold for suspecting and diagnosing AS, the researchers wrote. This can potentially lead to earlier diagnosis and better outcomes for AS patients.

The report, A case study of early diagnosed Angelman syndrome: recognizing atypical clinical presentationswas published in Cureus Journal of Medical Science.

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Most Angelman patients diagnosed between 9 months and 6 years of age

Angelman syndrome is a rare genetic disorder characterized by symptoms such as developmental delays, motor problems, speech abnormalities, seizures and excessive excitability, with frequent laughing, smiling and gesturing.

Distinguishing physical signs include coarse (distinctive) facial features, a flat back of the skull, a prominent lower jaw, and a smaller-than-normal head circumference. These features usually develop within the first three years of life. Scoliosis, or curvature of the spine, is also a common feature of Angelman.

Although symptoms typically present between 6 and 12 months of age, most patients are diagnosed between 9 months and 6 years of age, with many cases being mistaken for other conditions with similar symptoms.

Researchers at the University of the Incarnate Word School of Osteopathic Medicine in Texas described the rare case of a newborn who showed developmental delays but few signs of Angelman.

Our patient has a relatively rare presentation of AS, wrote the researchers.

The boy was born without complications but experienced a 9.3% weight loss at two days of age. A month later, he was hospitalized due to failure to thrive and an inability to gain weight despite being fed on demand with expressed breast milk.

The patient was examined by a pediatric gastroenterologist who found no anatomical or physiological abnormalities of the digestive system. The parents were instructed to use only the formula, which helped the baby gain weight.

Regardless, the boy hasn’t reached developmental milestones for his age at two, four and six months. At two months he was unable to smile socially and at four months he could only partially roll over. Doctors suspected the boy might have developmental delays, so he received physiotherapy and speech therapy.

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The boy was referred to the neurologist and subjected to genetic testing

At nine months, the boy was diagnosed with global developmental delay and low muscle tone (hypotonia), and at 13 months he was referred to a neurologist.

Coarse facial features were noted on physical examination. However, there was no evidence of other characteristics consistent with Angelman, including protruding tongue, flat skull, prominent lower jaw, small head circumference, tremor-like movements, or excessive laughter.

Despite low muscle tone in his upper and lower extremities, the boy had normal strength and reflexes and a full range of motion. No history of seizures was noted, and MRI scans of the brain showed no signs of abnormalities, such as wasting (atrophy), bleeding, or fluid accumulation.

Seizure onset, which occurs in 75 percent of patients with AS before age three, was also absent in this patient, the team noted.

Genetic testing was ordered due to unexplained low muscle tone, which revealed a genetic mutation that causes Angelman. His family were informed of the diagnosis and future complications, and despite treatment, the boy has made slow progress.

Early diagnosis of AS is difficult due to the nonspecific symptoms and increased likelihood of misdiagnosis with other common genetic conditions, the researchers concluded.

This case study suggests that pediatricians should have a low threshold of suspicion for the diagnosis of AS when children present with nonspecific symptoms such as failure to thrive, hypotonia and global developmental delay, they added.

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