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Rapunzel Syndrome: Rat-shaped hair ball retrieved from five-year-old
Dubai girl’s intestine
In a rare condition, Indian expat girl used to ‘ingest hair strands when she was a baby’
Published: October 27, 2022 09:37
Sajila Saseendran, Senior Reporter
Gulf News
Dubai: In a rare medical condition named Rapunzel Syndrome, a rat-shaped ball of hair — 20cm long and 4cm thick — was recently removed from the small intestine of a five-year-old schoolgirl in Dubai.
When KG student Diya Rajesh complained of stomach pain on October 15, her mother Mahalakshmi Rajesh thought her daughter had not yet completely recovered from the viral fever she had suffered three weeks ago following a bout of vomiting, diarrhoea and stomach pain.
However, along with acute abdominal pain this time, she kept vomiting in greenish yellow colour for three days. When the pain did not subside even after three days of symptomatic treatment from a clinic, Diya was rushed to NMC Royal Hospital in Dubai Investment Park, where doctors diagnosed her with Rapunzel Syndrome and retrieved a rat-shaped ball of hair from her small intestine.
Only few such cases have been reported in world medical literature, said Dr Venkatesh M Annigeri, a consultant paediatric surgeon whose team treated Diya.
The syndrome
The syndrome is named after the fairy-tale character Rapunzel who was known for her long hair. However, the condition is caused by the habit of eating or ingesting hair, usually found in young women.
On clinical examination after her admission in the emergency department, Dr Annigeri said Diya was diagnosed to have acute intestinal obstruction (complete block in the small bowel).
“With abdominal ultrasound and Contrast Enhanced Computerised Tomography [CECT], the child was diagnosed with a rare clinical condition — primary small bowel trichobezoar — which was causing acute intestinal obstruction,” he added.
He said trichobezoar or concretion of hair refers to a mass of hair accumulated within the gastrointestinal tract.
Rat-shaper-hair-ball-retrieved-from-the-small-intestine-of-Diya-1666849050408
Rare in young age
After an emergency abdominal surgery that lasted for an hour, the rat-shaped hair chunk was removed from Diya’s small bowel on October 18.
“It is a rare clinical entity. Over 90 per cent of trichobezoars are found in young women and girls between 15 and 20 years of age. Our case is very rare due to her very young age.”
Dr Annigeri said a trichobezoar occurs mainly in association with a psychiatric disorder affecting usually young women, having the tendency of pulling out their own hair (trichotillomania) and eating it (trichophagia), which then remains undigested in the stomach.
“Stomach is the common site of occurrence. Primary small bowel bezoar without associated gastric bezoar like in our case is very rare,” he pointed out.
How did Diya get it?
Speaking to Gulf News, Diya’s mother Mahalakshmi said her child had suffered from the hair-ingesting syndrome only when she was a baby.
“That was when she was six-seven months or so,” she said. Mahalakshmi said she was aware of pica disorder in babies due to which they eat non-food items.
“We had noticed that she was picking up hair from the floor and eating. I had to keep cleaning the house three-four times a day. She used to go under the cot and find out some strands of hair. By the time I catch hold of her, she would have swallowed it,” she recollected.
Mahalakshmi said she was hoping that things would be normal when Diya starts having solid food. And it did. “She stopped that habit when she started eating food after some months.”
However, she never expected that her child had ingested such a huge concretion of hair. “She did not know she had this syndrome. When she grew, she loved growing her hair and she doesn’t like to cut her long hair now. So, it was a big shock to us,” she added.
First 'concrete picture' of Neanderthal family revealed by DNA
Researchers focus on multiple Neanderthal remains found in the caves in southern Siberia
Published: October 19, 2022 23:18
AFP
A reconstruction of a Neanderthal father and his daughter is seen in this undated handout photo provided by the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany. Image Credit: REUTERS
Paris: The original Flintstones? The largest genetic study of Neanderthals ever conducted has offered an unprecedented snapshot of a family, including a father and his teenage daughter, who lived in a Siberian cave around 54,000 years ago.
The new research, published in the journal Nature on Wednesday, used DNA sequencing to look at the social life of a Neanderthal community, finding that women were more likely to stray from the cave than men.
Previous archaeological excavations have shown that Neanderthals were more sophisticated than once thought, burying their dead and making elaborate tools and ornaments.
However little is known about their family structure or how their society was organised.
The sequencing of the first Neanderthal genome in 2010, which won Swedish paleogeneticist Svante Paabo the medicine Nobel prize earlier this month, offered a new way to discover more about our long-extinct forerunners.
An international team of researchers focused on multiple Neanderthal remains found in the Chagyrskaya and Okladnikov caves in southern Siberia.
The scattered fragments of bones were mostly in a single layer in the earth, suggesting the Neanderthals lived around the same time.
"First we had to identify how many individuals we had," Stephane Peyregne, an evolutionary geneticist at Germany's Max Planck Institute and one of the study's co-authors, told AFP.
'Seem much more human'
The team used new techniques to extract and isolate the ancient DNA from the remains.
By sequencing the DNA, they established there were 13 Neanderthals, seven males and six females. Five of the group were children or early adolescents.
Eleven were from the Chagyrskaya cave, many of them from the same family including the father and his teenage daughter, as well as a young boy and a woman who were second-degree relatives, such as a cousin, aunt or grandmother.
The researchers also worked out that one man was a maternal relative of the father because he had a genetic phenomenon called heteroplasmy, which only passes down a couple of generations.
In this photo provided by Bence Viola, researchers excavate a cave in the mountains of Siberia, Russia.
Image Credit: AP
"Our study provides a concrete picture of what a Neandertal community may have looked like," Max Planck's Benjamin Peter, who supervised the research along with Paabo, said in a statement.
"It makes Neandertals seem much more human to me," he added.
Genetic analysis showed that the group did not interbreed with its nearby relatives such as humans and Denisovans, hominins discovered by Paabo in caves just a few hundred kilometres away.
However we know that Neanderthals did breed with homo sapiens at some point - Paabo's research also revealed that almost all modern humans have a little Neanderthal DNA.
Except Africans!
Rampant inbreeding
The community of around 10 to 20 Neanderthals seems to have instead bred largely among themselves, displaying very little genetic diversity, the study found.
Neanderthals existed between 430,000 to 40,000 years ago, so this group was living in the twilight of its species.
This photo provided by Bence Viola shows the Chagyrskaya Cave area in Siberia, Russia. Image Credit: AP
The study compared the community's level of inbreeding to endangered mountain gorillas. Another explanation for the inbreeding could be that the Neanderthals lived in an isolated region.
"We are probably dealing with a very subdivided population," Peyregne said.
The researchers found that the group's Y-chromosomes, which are inherited from father to son, were far less diverse than its mitochondrial DNA, which is inherited from mothers.
This suggests that the women travelled more frequently to interact and breed with different groups of Neanderthals, while the men largely stayed home.
Travelled!???!! Does that mean something like kidnapped?
Antoine Balzeau, a palaeoanthropologist at France's National Museum of Natural History, said that fossils found in the Sidron Cave in Spain prompted suggestions of a similar Neanderthal community there, but far less complete genetic material is available.
Balzeau, who was not involved in the latest study, said it was "a very interesting technical feat".
But "it will have to be compared with other groups" of Neanderthals, he added.
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