Klippel-Trenaunay-Weber Syndrome with Hemimegalencephaly; Report of a Pediatric Case

Background

Klippel-Trenaunay-Weber Syndrome (KTWS) is a rare neurocutaneous syndrome. Hemimegalencephaly (HME) and seizure episodes have been reported previously in a few cases with KTWS.

Case Presentation

We report here a 3 day-old girl with partial motor seizures, extensive port-wine staining and mild structural deformities in the feet, and a hemimegalencephaly.

Conclusion

Occurrence of partial motor seizures in addition to bilateral lower extremities extensive port-wine staining is a unique feature seen in our case.     

HDR Syndrome (Hypoparathyroidism,Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease

Background

HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are reported in combination with Hirschsprung disease like DiGeorge syndrome, mosaic trisomy 8, XXY chromosomal constitution, partial duplication of chromosome 2q, tetrasomy 9p, and 20p deletion.

Case Presentation

Here, we describe an 8 year-old girl with HDR syndrome accompanied by Hirschsprung disease. Although the association of Hirschsprung disease with chromosomal anomalies has been reported, according to our knowledge, this is the first report of associated HSCR with HDR syndrome.     

A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding

Background

McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.

Case Presentation

We report a girl with MAS, presenting initially with vaginal bleeding at the age of 17 months. Ultrasonography revealed unilateral ovarian cysts and ureteral and ovarian enlargement. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with medroxy-progestrone acetate (MPA) for three months. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 5.5 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had no cafe-au-lait skin macles during follow up.

Conclusion

Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropin-independent precocious puberty.     

Neonatal Marfan Syndrome: Report of Two Cases

Background

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age.

Case Presentation

We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis.

Conclusion

Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.     

Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome

Background

Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features.

Case Presentation

We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation).

Conclusion

Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features.     

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

Background

Peters Plus syndrome (MIM 261540) is a rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor abnormalities. Mutations in the B3GALTL gene encoding the β-1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome.

Case Presentation

We report here a female patient with severe manifestations of Peters Plus syndrome including facial dysmorphism and bilateral corneal opacity associated with left renal pyelo-calicial dilatation and sexual ambiguity. Total sequencing of the B3GALTL gene revealed no mutation in the patient.

Conclusion

To our knowledge, sexual ambiguity has not previously been reported in Peters Plus syndrome so far, and renal malformation is also apparently rare in the syndrome.     

Triple X Syndrome with Short Stature: Case Report and Literature Review

Background

Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome.

Case Presentation

A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3^rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test.

Conclusion

Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test.     

Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases

Background

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is characterized by recurrent episodes of infections and unexplained fever, anhidrosis (inability to sweat), and absence of reaction to noxious stimuli, self-mutilating behavior, mental retardation and damages to oral structures.

Case Presentation

In this article, we have demonstrated the signs and symptoms of 4 children that refer to the pediatrics department of the Imam Khomeini hospital and assay about their complications with this disease. They mostly presented by recurrent osteomyelitis in their feet that severely controlled by antibiotic therapy and even surgery. They had no pain sensation in spite of deep sore and infection.

Conclusion

This syndrome can be diagnosed by clinical and paraclinical tests together but it would be better to confirm by genetic test. The diagnosis of this syndrome helps us to try for the better quality of life for the patients and avoid unnecessary amputations.     

A Patient with Cystinosis Presenting Like Bartter Syndrome and Review of Literature

Background

Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure.

Case Presentation

We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4^th degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6^th month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12^th month of follow-up her metabolic alkalosis has converted to metabolic acidosis.

Conclusion

In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome.     

Juvenile Churg-Strauss Syndrome as an Etiology of Myocarditis and Ischemic Stroke in Adolescents; a Case Report

Background

Churg-Strauss syndrome (CSS), a systemic vasculitis accompanied by asthma and eosinophilia, almost invariably affects the lung and is frequently associated with cutaneous involvement. It rarely has cardiac involvement. We report an unusual case of CSS with myocardial involvement and stroke.

Case Presentation

A 16-year old female suffered of allergic asthma for 4 years. She was under treatment with oral prednisolone and seretide inhalation. After CSS diagnosis, she developed paroxysmal atrial tachycardia. Serum levels of Troponin I and Troponin T were increased indicating massive myocardial damage probably due to myocarditis. After 5 months she developed acute hemiparesis without any evidence of ischemic or hemorrhagic event. She was treated with IVIg, intravenous pulses of methylprednisone and cyclophosphamide for each complication.

Conclusion

Myocarditis and stroke may also complicate CSS which should be taken in consideration for better management.     

First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients

Objective

Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic facial dysmorphisms. It has been associated with maternal uniparental disomy (UPD) for chromosome 7 and hypomethylation of imprinting control region 1 (IGF2/H19) in 11p15. UPD refers to the situation in which both copies of a chromosome pair have originated from one parent. UPD can be presented both as partial heterodisomy and isodisomy. The aim of this study was to determine the maternal UPD7 (matUPD7) in 13 Turkish SRS patients.

Methods

Genotyping for matUPD7 was performed with microsatellite markers by polymerase chain reaction.

Findings

The maternal UPD7 including the entire chromosome was identified in 1/13 (7.6%) of individuals within SRS patients. There were no significant differences between clinical features of matUPD7 case and other SRS cases except congenital heart defects.

Conclusion

It is often difficult to establish diagnosis of a child with intrauterine growth retardation (IUGR), growth failure and dysmorphic features. Thus, screening for matUPD7 in IUGR children with growth failure and mild SRS features might be a valuable diagnostic tool.     

Nephrotic Syndrome Following H1N1 Influenza in a 3-Year-Old Boy

Background

The pandemic influenza A/H1N1, spread through the world in 2009, producing a serious epidemic in Italy. Complications are generally limited to patients at the extremes of age (<6 months or >65 years) and those with comorbid medical illness. The most frequent complications of influenza involve the respiratory system.

Case Presentation

A 3-year-old boy with a recent history of upper respiratory tract infection developed a nephrotic syndrome. Together with prednisone, furosemide and albumin bolus, a therapy with oseltamivir was started since the nasopharyngeal swab resulted positive for influenza A/H1N1. Clinical conditions and laboratory findings progressively improved during hospitalization, becoming normal during a 2 month follow up.

Conclusion

The possibility of a renal involvement after influenza A/H1N1 infection should be considered.     

Investigation of the Relationship Between Retinol Binding Protein 4, Metabolic Syndrome and Insulin Resistance in Iranian Obese 5-17 Year Old Children

Objective

Retinol-binding protein 4 (RBP4) has recently been reported to be associated with insulin resistance (IR) and the metabolic syndrome by a number of researchers in various populations. However, controversies are present among different studies, which might be due to the differences between various ethnic, age, and sex groups. This study aimed to determine whether RBP4 can be assumed as a marker of IR and the metabolic syndrome in the Iranian obese children.

Methods

In the present longitudinal cross-sectional study, 100 5-17 years old obese children were recruited from January 1, 2011 to February 1, 2012. The patients’ information including the demographic variables, health status and behavior, and daily physical activity were collected. Moreover, serum RBP4 was measured and correlated with the homeostasis model assessment of IR index (HOMA-IR), components of the metabolic syndrome, and lipoprotein metabolism.

Findings

The results revealed a positively significant correlation between RBP4 and the HOMA-IR index (P=0.02). Partial Spearman test also revealed a significant correlation between RBP4 plasma concentrations and the components of the metabolic syndrome, including waist circumference, systolic (but not diastolic) blood-pressure, and fasting blood sugar (P<0.05). However, no significant correlation was observed between RBP4 and HDL (P=0.3) as well as triglycerides concentration (P=0.1). Moreover, plasma RBP4 level gradually increased with the increasing number of the metabolic syndrome components.

Conclusion

Regarding the results of the present study and previous investigations, RBP4 seems to be a suggestible predictive marker for both insulin resistance and metabolic syndrome in Iranian obese children; however, further studies are needed to be conducted among different ethnicities and age groups in order to determine the predictive value of this correlation.     

Insulin and Leptin Levels in Appropriate-for-Gestational-Age Infants of Diabetic Mother

Objective

Intensified management of gestational diabetes mellitus can normalize birth weight. However, it is still unknown whether intrauterine exposure to maternal diabetes is a risk factor for changing hormone levels involved in the development of insulin resistance in these infants. We compared insulin and leptin levels in appropriate for gestational age (AGA) infants of diabetic and non diabetic mothers.

Methods

We performed a cross-sectional study in the department of Neonatology of the Hospital of Gynecology-Pediatrics, in Leon, Mexico. We evaluated 182 full term AGA newborns (86 infants of diabetic and 96 of non-diabetic mothers). A venous blood sample was taken from cord blood immediately after the separation of the placenta and glucose, insulin and leptin levels were measured. In all diabetic mothers HbA1c was also evaluated immediately post-partum.

Findings

Leptin, insulin and insulin resistance index were significantly higher in infants of diabetic mothers. Leptin levels were positive correlated with insulin, parents‘ body mass index and age in the entire group. In infants of diabetic mothers only insulin levels showed a significantly correlation, whereas in those of non-diabetic mothers only mothers‘ age was significantly correlated with leptin levels.

Conclusion

AGA infants of diabetic mothers showed higher leptin, insulin levels and insulin resistance index than those of non-diabetic mothers.     

Diphallus: Report on Six Cases and Review of the Literature

Background

Diphallus is an extremely rare anomaly. Numerous associated genitourinary, gastrointestinal and other anomalies have been described with diphallus. These patients need several investigations, and finally surgical intervention.

Cases Presentation

In this report we discuss six patients with diphallus which evaluated retrospectively. Five patients had complete diphallia, and one had bifid diphallus. Meatus was normal in 3, hypospadiac in 2, and epispadiac in one patient. The most common associated anomaly was bifid scrotum (5 cases), and other common anomalies consisted of bladder duplication (3 cases), imperforate anus (2 cases), and hypospadias (2 cases). Phalloplasty was performed for all but one.

Conclusion

All the patients with urethral duplication have to be evaluated carefully because of the high incidence of other systemic anomalies.     

Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families

Background

Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder.

Case(s) Presentation

We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them.

Conclusion

The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature.     

Acanthosis nigricans,Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome

Background

Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and insulin levels.

Case Presentation

Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered from diabetes mellitus type I since she was 6 years old. Hyperglycemia did not respond to age appropriate insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control. Twenty two exons of insulin receptor gene (INSR), on short arm of chromosome 19, were sequenced, but no identifiable disease causing mutation was detected.

Conclusion

Although a rare mutation within the intronic or promoter region has not been excluded in this case, further molecular studies on patients with insulin resistance syndromes associated with certain features are needed.     

Frequency of Shiga Toxin-Producing Genes of Escherichia Coli Isolated from Diarrheic Stools of Iranian Children by PCR

Objective

Shiga toxin-producing E. coli (STEC) is a pathogenic E. coli that may cause hemolytic uremic syndrome (HUS) after diarrheal disease through Shiga toxins. Management of the patients with STEC infection is different from that of other diarrheal diseases due to increase in frequency of HUS after antibiotic administration. Few studies were conducted in Iran and epidemiology of STEC remains obscure; this necessitates examination of stools especially in young children for this bacterium.

Methods

We determined the frequency of STEC in 947 E. coli strains isolated from diarrheal stools of children less than 14 years in Tehran with conventional culture methods and multiplex-PCR via determining the STX1 and STX2 genes, between October 2008 and September 2009. We also evaluated the association between stool exam findings and presence of STEC.

Findings

Twenty seven (2.8%) of E. coli isolates were positive for STX1 or STX2 genes, most of which occurred in spring (P<0.05). There was no significant association between STEC positivity and stool exam findings. Eighteen out of 27 (66.7%) Shiga toxin positive samples were isolated from males and the rest from females. The most common STX-positive diarrheal samples showed loose consistency (P<0.017).

Conclusion

Although the low frequency of STEC in our population indicates that it is not a major problem in our population, STEC should be regarded as an important infection because of its severe consequences. Further studies with greater sample size are needed to confirm our results.     

Clinical outcome and bowel function after surgical treatment in Hirschsprung's disease

Background:

Bowel function has been reported to be adversely affected following surgery in cases of Hirschsprung. We retrospectively studied both the clinical outcome and bowel function status following surgery in patients diagnosed with Hirschprung''s disease (HD). 161 cases, who underwent pull-through operations for HD in Sheikh Pediatric Tertiary Centre, Mashhad, Iran. The specified time bracket spanned between 2006 and 2011.

Materials and Methods:

Data was extracted from Health Information System with the aim of investigating patients for both short and long-term gastrointestinal (GI) complications after surgery bases in addition to the concurrence of any associated anomalies. Three main procedures were analysed in this respect (Swenson, Duhamel and Soave).

Results:

In a study of 96 (59%) boys and 65 (40.3%) girls, mortality rate was reported to be 15.5% (15 males and 10 females). A considerable majority of almost three fourths were detected with both early and late GI complications after surgery. The latter mainly included constipation (30.8%), incontinence (19.8%), enterocolitis (8%), diarrhea (11%) in a declining order of incidence. Down syndrome and others HD-associated anomalies were detected in 3.7% and 24.3% of cases respectively.

Conclusions:

Constipation and foecal incontinence were the most prevalent postoperative complications, which were reported almost as frequent in other studies. Yet, Enterocolitis, was reported slightly less in prevalence. Also mortality rates were considerably higher, compared to developed nations.Key words: Bowel function, constipation, foecal incontinence, Hirschsprung''s disease