Berdon syndrome, also called megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is a generally fatal

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

affecting the

bladder The bladder () is a hollow organ in humans and other vertebrates that stores urine from the kidneys. In placental mammals, urine enters the bladder via the ureters and exits via the urethra during urination. In humans, the bladder is a distens ...

, colon, and

intestines The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The tract is the largest of the body's systems, after the cardiovascular system. ...

. It is more prevalent in females (7 females to 3 males) and is characterized by

constipation Constipation is a bowel dysfunction that makes bowel movements infrequent or hard to pass. The Human feces, stool is often hard and dry. Other symptoms may include abdominal pain, bloating, and feeling as if one has not completely passed the ...

and

urinary retention Urinary retention is an inability to completely empty the bladder. Onset can be sudden or gradual. When of sudden onset, symptoms include an inability to urinate and lower abdominal pain. When of gradual onset, symptoms may include urinary incont ...

, microcolon, giant bladder ( megacystis), intestinal hypoperistalsis,

hydronephrosis Hydronephrosis is the hydrostatic dilation of the renal pelvis and Renal calyx, calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dila ...

, and dilated small

bowel The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The tract is the largest of the body's systems, after the cardiovascular system. T ...

. The pathological findings consist of an abundance of

ganglion A ganglion (: ganglia) is a group of neuron cell bodies in the peripheral nervous system. In the somatic nervous system, this includes dorsal root ganglia and trigeminal ganglia among a few others. In the autonomic nervous system, there are ...

cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown cause. Walter Berdon ''et al.'' in 1976 first described the condition in five

female An organism's sex is female ( symbol: ♀) if it produces the ovum (egg cell), the type of gamete (sex cell) that fuses with the male gamete (sperm cell) during sexual reproduction. A female has larger gametes than a male. Females and ...

infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated

small intestines The small intestine or small bowel is an organ in the gastrointestinal tract where most of the absorption of nutrients from food takes place. It lies between the stomach and large intestine, and receives bile and pancreatic juice through the ...

Signs and symptoms

Genetics

Several genes are known to be implicated in this syndrome: these include ''

ACTG2 Actin, gamma-enteric smooth muscle is a protein that in humans is encoded by the ''ACTG2'' gene. Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, thre ...

'', '' LMOD1'', ''

MYH11 Myosin-11 is a protein that in humans is encoded by the ''MYH11'' gene. Function Myosin-11 is a smooth muscle myosin belonging to the myosin heavy chain family. Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain sub ...

'' and ''

MYLK Myosin light chain kinase, smooth muscle also known as kinase-related protein (KRP) or telokin is an enzyme that in humans is encoded by the ''MYLK'' gene. Function This gene, a muscle member of the immunoglobulin superfamily, encodes a myosin ...

''.

Diagnosis

Berdon syndrome is generally diagnosed after birth by the signs and symptoms as well as

radiological In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or a material medium. This includes: * ''electromagnetic radiation'' consisting of photons, such as radio waves, microwaves, infr ...

and surgical findings. It can be diagnosed in the

womb The uterus (from Latin ''uterus'', : uteri or uteruses) or womb () is the organ in the reproductive system of most female mammals, including humans, that accommodates the embryonic and fetal development of one or more fertilized eggs until bi ...

by ultrasound, revealing the enlarged bladder and hydronephrosis.

Treatment

Long-term survival with Berdon syndrome usually requires

parenteral nutrition Parenteral nutrition (PN), or intravenous feeding, is the feeding of nutritional products to a person intravenously, bypassing the usual process of eating and digestion. The products are made by pharmaceutical compounding entities or standard ph ...

and

urinary catheterisation In urinary catheterization, a latex, polyurethane, or silicone tube known as a urinary catheter is inserted into the bladder through the urethra to allow urine to drain from the bladder for collection. It may also be used to inject liquids used ...

diversion Diversion, Diversions, or The Diversion may refer to: Arts and entertainment * ''Diversion'' (film), a 1980 British television film adapted into the 1987 movie ''Fatal Attraction'' * ''Diversion'' (play), a 1927 work by John Van Druten * '' T ...

. Most long-term survivors also have ileostomies. A multivisceral transplant (stomach, pancreas, small bowel, liver and large intestine) has also been successful. In a 2011 study of 227 children with the syndrome, "the oldest survivor as24 years old."

References

External links

* * {{Medical resources , DiseasesDB = 32131 , ICD10 = , ICD9 = , ICDO = , OMIM = 249210 , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeshID = Autosomal recessive disorders Syndromes affecting the gastrointestinal tract Genetic disorders with OMIM but no gene Syndromes affecting the kidneys