Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: a novel syndrome?

Absent abdominal muscles, cryptorchidism, and hydroureteronephrosis are known to occur in the prune belly syndrome [PBS]. We present a male with absent abdominal muscles, severe neurologic damage, with global developmental delay, hydroureteronephrosis, and cryptorchidism. The patient also had arthrogryposis multiplex congenital, low set ears, short neck, micrognathia, bilateral total ptosis, and bilateral clubfeet. Genetic testing [CGH array] revealed 3 novel duplications of unknown clinical significance at 7qll.23, 9q22.32 [PTCH 1 gene], and 12q21.32 [CEP 290 gene]. We feel that our patient represents a novel entity, henceforth not described in the literature

Non-infectious causes of recurrent flank pain in older children

To find out the etiology of non-infectious recurrent flank pain in older children. The medical records of 84 consecutive children older than 5 years of age with non-infectious flank pain were retrospectively reviewed. Data checked included history, physical examination, laboratory investigations [serum creatinine, uric acid, and calcium], 24 hour urine collection for creatinine, calcium, oxalate, and uric acid, in addition to imaging studies. Those with systemic disease and urinary tract infection [UTI] were excluded. The most common causes of recurrent non-infectious flank pain in older children were crystalluria [59.5%] and urolithiasis [17.8%]. Amongst the crystalluria, hyperoxaluria was the most frequent. Other etiologies included constipation [6.0%], sterile vesicoureteral reflux [6.0%], and pelviureteric junction obstruction [4.7%].Family history was positive for stones in 45% of urolithiasis cases.Renal ultrasonography was adequate for diagnosing all kidney stonesand unenhanced helical computed axial tomography [UHCT] diagnosed ureteral stones with typical renal colic pain radiating to the groin. Constipation was found to be an important, yet overlooked cause of extraurinary flank pain. The most important non-infectious causes of recurrent flank pain in older children were crystalluria, urolithiasis, constipation, pelviureteric junction obstruction, and sterile vesicoureteral reflux. A positive family history of stones played a key role in initiating workup for crystalluria and urolithiasis. Focused histories and physical examinations were important in those cases with constipation as a cause of reversible flank pain

clinical profile of infections in childhood primary nephrotic syndrome

To study the clinical profile of infections in a primary nephritic syndrome. We conducted a retrospective analysis of infections in 98 consecutive children [males 65, females 33] with primary nephrotic syndrome, who satisfied the International Study of Kidney Disease in Children criteria. Their mean age at onset of symptoms was 55 +/- 3.4 months [range: 6 months to 17 years]. The mean duration of follow-up was 38 +/- 3.4 months [range: 12 to 60 months]. A total of 379 episodes of infection were observed in 87 of the 98 children. There was no relationship between age, sex, and severity or frequency of infections. The most common infections were upper respiratory tract infection [30.64%], gastroenteritis [11.08%], urinary tract infection [9.50%], and peritonitis [5.54%]. Other infections included multiple warts, polyoma virus nephropathy, and pneumococcal appendicitis, which were not previously reported. Nephrotic children may get a variety of bacterial and viral infections

Childhood hemolytic uremic syndrome in Jordan

Hemolytic Uremic Syndrome [HUS] is the most common cause of Acute Kidney Injury [AKI] in the developed countries. It consists of Microoangiopathic Hemolytic Anemia [MAHA], AKI and thrombocytopenia. To review the outcome of childhood Diarrhea-associated Hemolytic Uremic Syndrome [D+HUS] presenting to the pediatric department at Jordan University Hospital [JUH]. In this retrospective study war reviewed the medical rectors of children presenting to JUH between January 1977 and January 2008 with D+HUS. There were 21 patients [15 girls and 6 boys]. Age ranged from 6 months to 11 years. 8 children [38%] had Entamoeba histolytica infection. 57% needed peritoneal dialysis. Central nervous system manifestations included drowsiness in 8 patients [38.1%], limb weakness in 2 patients [9.5%], seizures in 9 patients [43%], irritability 3 patients [14%], transient blindness in 2 patients [9.5%], and uremic encephalopathy in 1 patient [4.8%]. Complete recovery in 11 patients [52.4%], chronic kidney disease in 6 patients [28.6%], central nervous system deficit in 2 patients, and death in 2 patients [9.5%]. There was no correlation between the outcome and the presence of leukocytosis, thrombocytopenia, severity of renal failure, hyponatremia, or hypertension [p<0.05]. Our data highlights the importance of D+HUS in the pediatric age group. In addition, it emphasizes its manifestations, complications, and outcome

Dilated cardiomyopathy with entamoeba histolytica associated hemolytic uremic syndrome in a child: a case report with review of the literature

This research aims at reporting an unusual 16 month old female who developed dilated cardiomyopathy and type IV renal tubular acidosis during the course of diarrhea positive Hemolytic Uremic Syndrome [D+ HUS] following Entamoeba histolytica infection. D+ HUS with cardiomyopathy and Entamoeba histolytica is rare. Associated Type IV RTA has not been described in the literature

medical consult: a two way street

Consulting colleagues is one way of providing better care for patients. The medical consult may be directed to subspecialists from the same department or a different service. It may be done officially by a written request, or informally, by phone, and even email. In addition, the medical consult is a useful tool for teaching medical students, interns, residents, and fellows. However, to be effective, it has to be done properly

Need for a Jordanian national registry of chronic renal disease

There is sparse information on Chronic Kidney Disease [CKD] in developing countries which harbor the vast majority of the population with End Stage Renal Disease [ESRD]. Data for children are inaccurate, with frequent underreporting of CKD. With the escalating incidence of chronic kidney disease, it becomes obvious that there is a need for a Jordanian National Renal Registry [JNRR]. This should be accomplished by the Ministry of Health, after establishing a national kidney foundation. The Jordanian Society of Nephrology should be actively involved. The Registry should have representatives from the universities, government, armed forces, and private sectors. The registry should be considered as a national treasure

Childhood haemolytic-uraemic syndrome in Qatar

Fourteen cases of childhood haemolytic uraemic syndrome [HUS]diagnosed at a general hospital over a 7 year period were reviewed retrospectively. Four patients with typical post diarrhoea HUS were members of tow families. Factors associated with a poorer prognosis included an older age, an initially elevated white blood cell count, and thrombocytopenia. The thrombocytopenia was associated with statistically significant biochemical changes of serum chemistries [hyponatraemia, hypocalcaemia, hypoalbuminaemia, hyperuricaemia and hypertriglyceridaemia]. The elevation of the serum transaminases was not statistically significant

Paediatric computerized axial tomography: the role of neurologic disease on the sedative effects of DPT cocktail

A total of 403 attempts to sedate children for computerized axial tomography scan showed a successful sedation rate of 82.58 in patients of non neurologic disorders which was not significantly different from the great majority of subjects with neurologic disorder. However, this rate was significantly higher [97.28] in attempts on patients with heredofamilial neurologic diseases. Because it's a multiple drug mixture, "DPT" cocktail imposes major risks on children given that regimen. This study was done to determine whether the sedation potential of this mixture is related to the type of primary disease in children undergoing scanning