Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. The oligohydramnios andor the lack of renal proline production leads to pulmonary hypoplasia, respiratory insufficiency and potter facies of the children. We describe the diagnosis and management of doegepotter syndrome and the use of transarterial chemoembolization in a patient. Potter syndrome nord national organization for rare disorders. The syndrome of hypoglycemia is seen in less than 5% of the cases, and the associated tumors are large with a high mitotic rate.
The syndrome was first described in 1930, by karl walter doege 18671932, a germanamerican physician and by roy pilling potter 18791968, an american radiologist, working. A key feature of praderwilli syndrome is a constant sense of hunger that usually begins at about 2 years of age. In utero, the fetus maintains its metabolic homeostasis through the placenta, and it is only after birth that the kidneys assume responsibility for metabolic function. Jul 28, 2014 potter s syndrome survivor celebrates incredible milestone.
This is why potter syndrome is often called potter sequence or oligohydramnios sequence by some clinicians and researchers. Potter syndrome type iii is due to autosomal dominant14 polycystic kidney disease adpkd linked to mutations in the genes pkd1 and pkd2. Doegepotter syndrome by malignant solitary fibrous tumor. In potter syndrome, the primary problem is kidney failure. Medl syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered medl gene in each cell is sufficient to cause the disorder. Potters syndrome survivor celebrates incredible milestone. This is a digital productyoull be sent an email with pdf files to download. Nov 22, 2017 potter sequence refers to a group of features that can result when there is too little amniotic fluid oligohydramnios surrounding a baby while in the uterus.
Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia of a neonate as a direct result of. Autobiographical sketch on my reluctant descent into harry potter mania. Potter syndrome differential diagnoses medscape reference. Harry potter syndrome or hps is the phenononom when you begin to read a book usually harry potter but also another interesting novel around 11 pm. Praderwilli syndrome fact sheet who has praderwilli syndrome pws. It was first identified by pena and shokeir in 1974 1, although early. The term was coined after the pathologist edith potter, who in 1946 described the facial characteristics of infants with bilateral renal agenesis. Causes symptomes traitement pronostic prevention terme maladie. Classic potter syndrome occurs when the infant has bilateral renal agenesis. Some authors feel that potters sequence rather than potters syndrome is more appropriate. Jan 31, 2018 praderwilli prahdur vile syndrome is a rare genetic disorder that results in a number of physical, mental and behavioral problems. Signs that might be identified on ultrasound include kidney abnormalities, low level of amniotic fluid oligohydramnios, underdevelopment of the lungs pulmonary hypoplasia, and facial features typical of babies with potter sequence potter facies. This tumor causes hypoglycemia by the secretion of a prohormone form of insulinlike growth factor ii.
The cause of hypoglycemia is related to insulinlike growth factors produced by these tumors. Praderwilli syndrome symptoms and causes mayo clinic. Potter syndrome ps is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fl uid volume secondary to renal diseases such as bilateral renal agenesis bra. Potter sequence refers to a group of features that can result when there is too little amniotic fluid oligohydramnios surrounding a baby while in the uterus. Potter syndrome type iv occurs when a longstanding obstruction in either the kidney or ureter leads to cystic kidneys. Surgery is the best therapeutic modality and prolongs life, but also improves the clinical characteristics associated with doege potter syndrome if present. Penashokeir syndrome pss omim 208150 is a rare, early lethal disorder with an.
Jan 21, 2015 potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia of a neonate as a direct result of oligohydramnios and compression while in utero. The full text of this article is available in pdf format. People with praderwilli syndrome want to eat constantly because they never feel full. Below are the different ways that potter syndrome a. This condition is characterized by progressive loss of mental and movement abilities psychomotor regression and typically results in death within two to three years, usually due to respiratory failure. We report a case of recurrent solitary fibrous tumor with associated hypoglycemia, the doegepotter syndrome.
The national institutes of health explains potters syndrome is a rare condition that involves a babys kidneys failing while in the. Potter syndrome is not technically a syndrome as it does not collectively present with the same telltale characteristics and symptoms in every case. Potter syndrome is a very serious illness and a deadly condition. Doegepotter syndrome dps is a paraneoplastic syndrome in which hypoglycemia is associated with solitary fibrous tumors. Acquired pws can result later in life from brain trauma. Potter syndrome potter phenotype neonatology a complex of findings caused by prenatal renal failure and oligohydramnios. After reading a satisfying amount, you decide to go to bed. True bra also presents with bilateral agenesis of the ureters8. Doege potter syndrome is a paraneoplastic syndrome characterized by nonislet cell tumor hypoglycemia secondary to a solitary fibrous tumor. Doegepotter syndrome is a paraneoplastic syndrome characterized by nonislet cell tumor hypoglycemia secondary to a solitary fibrous tumor.
The cause of hypoglycemia is related to insulinlike growth factors produced by these. Pws is a complex genetic disorder affecting appetite, growth, metabolism, cognitive function and behavior. Other causes are abstraction of the urinary tract, autosomal recessive polycystic kidney disease arpkd. The patient utilized prednisone for glycemic control and underwent percutaneous biopsy and later surgical intervention. Surgery is the best therapeutic modality and prolongs life, but also improves the clinical characteristics associated with doegepotter syndrome if present. Potter syndrome is a rare condition characterized by the physical. The mechanism of nicth, especially the physiological role and pathology of the. Syndrome where an individual believes to be the fictional character harry potter from the successful series by j. Potter disease definition of potter disease by medical. Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia of a neonate as a direct result of oligohydramnios and compression while in utero. Potter s syndrome describes the typical physical appearance caused by pressure in utero due to oligohydramnios, classically due to bilateral renal agenesis bra but it can occur with other conditions, including infantile polycystic kidney disease, renal hypoplasia and obstructive uropathy. Potter syndrome ps is a term used to describe a typical physical appearance, which is the result of a dramatically decreased amniotic fluid volume oligohydramnios secondary to renal diseases such as bilateral renal agenesis bra. Doege potter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of insulinlike growth factor ii igfii from a.
The kidneys normally produce the amniotic fluid as urine. These are clubbed limbs and flattened facial features. The syndrome was first described in 1930, by karl walter doege 18671932, a germanamerican physician and by roy pilling potter 18791968, an american radiologist, working independently. Jul 31, 2007 autobiographical sketch on my reluctant descent into harry potter mania. Bilateral renal agenesis bra or potter syndrome is a relatively rare congenital defect in which agenesis of the kidneys is associated with oligohydramnios. The hypoglycemia is the result of the tumors producing insulinlike growth factor 2. The potter sequence is a constellation of findings demonstrated postnatally as a consequence of severe, prolonged oligohydramnios in utero. Potter syndrome mnemonic radiology reference article. The antenatal diagnosis of potter syndrome potter sequence. Doegepotter syndrome by malignant solitary fibrous tumor of. It is technically a sequence, or chain of events that may have different beginnings, but ends with the same conclusion. Dec 11, 2014 potter s syndrome describes the typical physical appearance caused by pressure in utero due to oligohydramnios, classically due to bilateral renal agenesis bra but it can occur with other conditions, including infantile polycystic kidney disease, renal hypoplasia and obstructive uropathy.
We describe the diagnosis and management of doege potter syndrome and the use of transarterial chemoembolization in a patient with a malignant. Potter syndrome definition of potter syndrome by medical. Isaacs story life after potters syndrome grief takes time. Symptoms include lightheadedness and fainting when standing from a seated or lying position. Potter syndrome ps is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fl uid volume secondary to renal diseases such as bilateral. Potter facies, pulmonary hypoplasia, renal agenesis. This can cause distinct facial features potter facies, which may include a flattened nose, recessed chin, skin folds covering the corners of the eyes epicanthal folds, and lowset abnormal ears. Doegepotter syndrome is a rare paraneoplastic syndrome presenting as a hypoinsulinaemic hypoglycaemia from the ectopic secretion of a prohormone of. Hello there, i am so very sorry for your loss my baby also had potters syndrome also known as bilateral renal agenysis,my son was born on 18th july 2010 so your story is very similar, however i did not go to full term, my husband and i took the heartbreaking decision to termininate at 21 weeks, however it didnt make the experience any less painful for us, we decided to terminte to take. Doctors dont know exactly what causes pots, but episodes seem to begin after trauma, major surgery, a viral illness, just before. Potter syndrome type iv occurs when a longstanding. Pot syndrome causes, symptoms, treatments, and diets. Potter sequence can be diagnosed when a doctor sees signs of the sequence, either on ultrasound or after a baby is born. Potter syndrome and potter phenotype refers to a group of findings associated with a lack of amniotic fluid and kidney failure in an unborn infant.
Potter syndrome, characterized by a disfigured face, pulmonary hypoplasia, and skeletal deformities, is a result of lack of amniotic fluid secondary to renal agenesis. The national institutes of health explains potter s syndrome is a rare condition that involves a babys kidneys failing while in the. A helpful mnemonic to remember the common clinical features of potter syndrome is. Potter syndrome type ii is due to renal adysplasia ra, which can also fall under the category known as hereditary renal adysplasia hra. Potters syndrome babies, usually have side effects that can be exacerbated by the size of the baby and lack of fluid, oligohydramnios. I was only able to find one potter s syndrome baby. Some cases are associated with a paraneoplastic hypoglycaemia definied as doege potter syndrome.
Pdf potter syndrome ps is a term used to describe a typical physical appearance, which is the result of dramatically decreased amniotic fl. Potter sequence genetic and rare diseases information. A patient with typical potters syndrome and full trisomy 7 is described. Pot syndrome pots, postural orthostatic tachycardia syndrome is a heart condition that involves the bodys blood vessels. Some cases are associated with a paraneoplastic hypoglycaemia definied as doegepotter syndrome. In the present study, a mother in her 25 th week of pregnancy with a potter syndrome fetus, diagnosed through ultrasound, was admitted to the delivery unit and gave a normal birth to a baby who died a few moments after birth. Apr 26, 2008 praderwilli syndrome fact sheet who has praderwilli syndrome pws. These are rare tumors with a 12% rate of malignancy. The kidneys fail to develop properly as the baby is growing in the womb.
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