Prune Belly Syndrome -

dexa

Prune Belly Syndrome

Synonyms include Frolich's syndrome, Frolich-Obrinsky syndrome, Eagle-Barrett syndrome, Abdominal Muscle Deficiency Syndrome, Congenital Absence of the Abdominal Muscles, Obrinsky Syndrome

Description

It is a congenital abnormality of unknown aetiology with 3 characteristic features:

    * Deficient development of abdominal muscles that causes the skin of the abdomen to wrinkle like a prune
    * Cryptorchism
    * Abnormalities of the urinary tract, usually hydronephrosis and vesico-ureteric reflux

There may also be pulmonary hypoplasia.

Epidemiology

It is rare. A frequency of about 1 in 30,000 live births is found.1 About 97% are boys.

OMIM discusses the possibility of genetic inheritance. If it were an X-linked recessive, it would be expected to occur in multiple brothers. The precise form of inheritance is unknown. It may be variable and it may often represent a new mutation. A sex linked autosomal recessive form of inheritance has been strongly suggested.

A study from Cameroon found that most mothers were under 30 with singleton pregnancy but about two-thirds were complicated by placenta praevia, genital infections, pre-eclampsia, and anaemia from hookworm infestations.

Presentation

Consistent features are:

    * During pregnancy there is oligohydramnios.
    * The newborn infant has a wrinkled abdomen that looks like a prune. This is because the abdomen swelled with fluid in utero, then lost that fluid after birth, leading to wrinkles of excess skin. The appearance is accentuated by poor abdominal musculature.
    * Cryptorchism.
    * Dilated renal collecting structures and dilated bladder.

More variable findings are:

    * Underdeveloped lungs
    * Cardiac anomalies
    * Gastrointestinal anomalies
    * Musculoskeletal abnormalities like club foot or abnormal limbs

Investigations

The following tests are useful:

    * Ultrasound
    * Plain X-ray
    * Intravenous pyelogram (IVP)
    * Blood tests, especially renal function (rise in blood urea suggests obstruction of the renal tract)

Associated diseases

Other features include clubfoot (45%), pulmonary hypoplasia (27%), Potter facies (27%), imperforate anus (27%), and arthrogryposis (18%). In about 75% there are malformations of the cardiopulmonary, gastrointestinal, and orthopaedic systems.

Drugs

Antibiotics to treat or prevent UTI

Surgical

Surgical repair can be quite complex. Renal transplantation may be required. Results seem satisfactory but the deficient abdominal wall needs repair or it causes breathing difficulties.

There is little controversy about orchidopexy but other surgery is more contentious. Some people advocate a conservative approach. Others do more radical surgery at about 10 days old. There is considerable variation in the nature of abnormalities and it is advised that the clinical condition should be as much a guide as radiological abnormalities. There can be a variety of renal, ureteric and urethral abnormalities.

Reconstruction of the abdominal wall is not just cosmetic but improves lung function.

Complications

Complications depend on the associated abnormalities, the most common is chronic renal failure that occurs in 25-30% of cases.

Prognosis

Prune Belly Syndrome is a serious and often life threatening problem. Miscarriage, stillbirth and neonatal death are common. Multiple concomitant anomalies and bilateral renal lesions are the cause of fetal or infant death in 75% of cases. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.

Many die in the first two years of life. Bilateral abnormal kidneys on ultrasound or renal scan, a nadir serum creatinine above 62μmol/l and pyelonephritis are prognostic for renal failure.

Of those who survive, successful fertility has been reported but this is usually due to modern fertility interventions.

Prevention

There is no known prevention but the routine use of screening for fetal anomalies has resulted in rather more affected pregnancies being terminated.8 If an antenatal diagnosis of urinary obstruction is made it may be possible to perform intrauterine surgery to prevent the development of Prune Belly syndrome.9 The results seem promising.10
History

The condition was first described by Frolich in 1839. The description of prune belly is sometimes wrongly attributed to William Osler in 1901. He did not use the term. A variety of names are used eponymously with the syndrome including Frolich's syndrome, Eagle-Barrett syndrome, Obrinsky's syndrome and Frolich-Obrinsky syndrome.

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[ Last edited by  dexa at 24-1-2009 12:28 PM ]

makcikmengamok

ciannya..

naQi-tiRa

...hurmm

amazed

Prune Belly cenederung serang kanak-kanak lelaki
Oleh Hafizah Iszahanid

TIDAK banyak diketahui mengenai Sindrom Prune Belly, penyakit ketiadaan otot pada bahagian hadapan abdomen. Malah, dalam amalan perubatan kebanyakan pakar bedah kanak-kanak, mereka hanya bertemu satu atau dua kes saja sepanjang puluhan tahunan perkhidmatan.

Sindrom Prune Belly cenderung menyerang kanak-kanak lelaki, iaitu setiap satu kes dalam 40,000 hingga 50,000 kelahiran.

Sindrom Prune Belly dikategorikan sebagai penyakit yang jarang berlaku dan hingga kini punca sebenarnya masih belum diketahui. Bagaimanapun, penyelidik percaya gangguan dalam proses pembentukan janin mungkin menyebabkan ia terjadi. Dipercayai juga sebahagian salur kencing janin yang tersekat menyebabkan sebahagian lagi salur kencingnya menjadi tidak normal.

Ada juga kes yang melaporkan Sindrom Prune Belly terjadi di kalangan adik beradik yang membawa kepada kemungkinan disebabkan faktor genetik.

Pesakit sindrom Prune Belly biasanya berhadapan dengan tiga masalah utama:

• Otot abdomen bahagian hadapan tiada atau jika ada ia terlalu lembik menyebabkan kulit di bahagian perut berkedut seperti buah prune
• Sebahagian saluran kencingnya abnormal
• Hampir 95 peratus, zakar kanak-kanak berada dalam abdomen dan tidak turun ke kerandut seperti biasanya.

Selain itu, pesakit mungkin berhadapan dengan masalah fizikal yang lain seperti pinggul yang teralih, tulang belakang yang bengkok, masalah pernafasan dan jantung selain masalah gastro usus.
Penyelidik percaya ada kalanya, tanpa imbasan ultra sound yang teliti, sukar mengesan kehadiran Sindrom Prune Belly. Ini kerana ketika dalam kandungan, bahagian abdomen janin biasanya membengkak kerana cecair. Namun apabila cecair itu hilang selepas dilahirkan ia menyebabkan bahagian abdomen itu berkedut seakan-akan buah prune.

Begitupun ketika kehamilan, sesi imbasan ultrasound boleh mengesan perkembangan tidak normal pada pundi kencing dan salur kencing. Justeru, doktor sudah boleh mengagak ada yang tidak kena pada janin.

Selepas lahir, imbasan ultrasound juga boleh memastikan apa jenis keganjilan yang berlaku pada salur kencing.

Lazimnya pesakit Sindrom Prune Belly tidak dapat bertahan lama. Sekitar 20 peratus akan meninggal dunia dalam kandungan, 30 peratus meninggal dunia kerana masalah buah pinggang pada dua tahun pertama kelahiran, 50 peratus akan berhadapan dengan masalah salur kencing pada pelbagai peringkat. Biasanya paling lama, pesakit boleh bertahan hingga mencecah usia remaja.

Rawatan

Rawatan sebenarnya bergantung pada keadaan pesakit ia merangkumi usia, tahap kesihatannya, tahap keseriusan penyakit yang dialami selain toleransi pesakit pada rawatan.

Rawatan akan diberikan berdasarkan simptom. Biasanya antibiotik bagi mencegah jangkitan salur kencing. Ada juga kanak-kanak yang memerlukan pembedahan membuka pundi kencing melalui abdomen bagi mengosongkan pundi kencing.

Ada juga kanak-kanak yang memerlukan pembedahan bagi membina dinding abdomen dan salur kencing Selain itu, pembedahan khas untuk zakar dan kerandut juga diperlukan (orchiopexy). Bagaimanapun, ada kanak-kanak yang memerlukan ginjal baru berikutan kegagalan ginjal sedia ada berfungsi.