We report a series of cases of Berardinelli-Seip syndrome (congenital generalized lipodystrophy). This is a rare autosomal recessive disease. In our region, we have a higher prevalence than that reported in the literature. This is probably due to frequent marriages that occur between relatives. Unlike the literature data, we did not find any case of umbilical hernia in our patients. However, all patients had protrusion of the umbilicus due to lack of subcutaneous adipose tissue. Upon inspection, at a glance, this protrusion really looks like a hernia (Figure 1). Due to the rarity of the disease, physicians less aware of this syndrome could confuse this protrusion with an umbilical hernia. This could explain the frequent hernia reports in the …show more content…
We did not perform ultrasound exams to confirm the absence of hernia. We can hypothesize our physical examination could not be good enough for the diagnosis. In this case, in the absence of a correct diagnosis, patients should develop symptoms. Pain at the umbilicus (44%), pressure in the abdomen (20%) and nausea and vomiting (9%) are the most common symptoms (5), but no patient reported such symptoms. We could also think that these patients do not have congenital generalized lipodystrophy, explaining the absence of hernia. All patients had clinical features consistent with the diagnosis of BSCL. In addition, serum leptin and total body fat measured by DXA were very low. If that was not enough, all patients had confirmed mutations, ruling out the possibility they do not have the syndrome. There are four types of BSCL and here we report only cases of Types 1 and 2. The umbilical hernia could be more common in the Types 3 and 4, explaining the lack of diagnosis in our patients. However, the Types 1 and 2 account for 95% of all reported cases of BSCL (6) and Type 2 (more common in our series) is the most severe type of lipodystrophy. Thus, apart from cases reported here represent the most common clinical types, they also represent the most severe. Thus, these patients should present umbilical
It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
TRAPS, which refers to tumor necrosis factor receptor-associated periodic syndrome, is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A gene that expresses the receptor of tumor necrosis factor (TNF)-α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here we report a case of a 8-year-old male with febrile attacks occurring every 1-2 months and continued for 3-4 days. The patient experienced 40 ºC-fever attacks without chill.
Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen
Physicians have generally advised individuals to drink a lot of water if sick. A new case study reports the dangers of consuming too much water and shows the need for more study to support this standard advice. For years, the major medical advice in case of flu or respiratory infections has been to consume a lot of fluids. Theoretically, this is regarded good advice; while in a cold, the body releases more liquids via the nose or may be running a fever, which could result in more fluid loss.
When I was 15 months old, I still was not thriving. When they weighted me at the clinic, I weighed about 20 pounds, however, after the urgent care doctor came into see me, he was immediately concerned that I did not have any fat on my body. He decided they needed to do a chest and
 reported a case of spontaneous diaphragmatic hernia related to local invasion by retroperitoneal liposarcoma. Servais et al.  suggested that symptomatic diaphragmatic eventration during pregnancy should be repaired during the third trimester once fetal organogenesis is complete in order to prevent further herniation from the enlarging uterus and the risk of hernia strangulation. Yang et al.  reported a spontaneous diaphragmatic hernia in a 29-year-old woman and suggested that spontaneous diaphragmatic hernia might be caused by a static sport activity, such as
In milder cases diagnosis may occur later in life. When diagnosed later in life, symptoms may include feeding difficulties, frequent ear infections and speech difficulties. Cleft palate is also commonly associated with other disorders. Edmonson and Reinbartsen (1998) estimate that "between 44% and 64% of all oral cleft patients may have an additional anomaly," (p. 13) in conjunction with cleft palate and that "clefts have been associated with multiple syndromes, with estimates ranging from 150 to 300 possible syndromes" (p.
The first description of the etiology and surgical approach to Hirschsprung 's disease was by Dr Ovar Swenson in 1948. Swenson 's operation was difficult to carry out in early infancy also extensive dissection of the pelvis occasionally caused complications, therefore several methods including those proposed by Duhamel, Soave, and their modifications have been devised aiming at minimizing pelvic dissection, preserving the rectal wall and maintaining rectal sensation. Many problems, however, appeared due to leaving aganglionic tissues for example, fecaloma formation in the residual blind anterior rectal pouch  and functional obstruction of the pull through caused by the Soave cuff [5, 6].
However, if the hernia is large, it should be remove through a corrective medical surgery to eliminate the risk of complications. CAN I DO SOMETHING TO PREVENT UMBILICAL HERNIA FROM OCCURING? Unfortunately, for those umbilical hernias that are hereditary, you can never do something about them. The only way to stop hereditary hernia is to stop breeding.
Introduction: In the climate of ongoing financial austerity, especially within the United Kingdom National Health Service, many decisions regarding orthopaedic prosthesis use are driven by value for money. This often equates to which supplier can offer the cheapest deal. The impact of changing prosthesis, and it’s resultant inevitable surgical learning curve, on initial patient outcomes and complication rates is not known.
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Symptoms include: Wide-set eyes Microcephaly: technical term for a small head Low-set ears Epicanthic folds: extra folds of skin on the eyelid Palmar creases (also called a simian crease) High pitched ‘cat cry’ primarily during infancy Hypotonia during infancy Hypertonia in later years Difficulty swallowing Intellectual disability Language development problems Short attention span Hyperactivity and other behavior problems Symptoms that are likely to accompany but are not symptoms for a diagnosis are heart defects, cleft palate and lip, skeletal problems generally in the lower body, and digestive problems. These symptoms may not be harmful or even much of a hassle themselves but can lead to other problems that do cause suffering.