Saudi Boy Research Articles

Significant bleeding from Meckel\u2019s diverticulum after blunt abdominal trauma: a case report

BackgroundMeckel’s diverticulum, with an incidence of 2%, is the most common congenital anomaly in the gastrointestinal tract. Its main complications are perforation, obstruction, and bleeding. A few studies have reported that blunt abdominal trauma may result in perforation or obstruction to Meckel’s diverticulum. However, reports of significant major intestinal bleeding from Meckel’s diverticulum as a complication of blunt abdominal trauma is rare. This paper present what we believe to be the first reported case of significant intestinal bleeding from a Meckel’s diverticulum following blunt abdominal trauma.Case presentationA 12-year-old Saudi boy of Arab ethnicity presented to the King Saud Medical City emergency department with bleeding per rectum and mild abdominal pain following blunt trauma to his abdomen. On examination, his abdomen was slightly tender, bowel sounds were present, and he was hemodynamically stable. During admission, rectal bleeding was ongoing. On day 3 he deteriorated with decreasing blood pressure and hemoglobin, and increasing pulse rate with fever. After resuscitation and stabilization, he was urgently taken to the operating room for further diagnostic management and treatment. His nasogastric tube revealed bile without blood, and an intraoperative colonoscopy revealed altered blood within his whole colon and terminal ileum without a definite bleeding site. A laparotomy was performed, and an injured branch of the mesenteric artery supplying the Meckel’s diverticulum was identified as the source of the significant arterial bleeding. Suture ligation controlled the bleeding, and the Meckel’s diverticulum was resected. The patient remained stable after that until discharge without any further intestinal bleeding.ConclusionIdentifying bleeding as a complicated Meckel’s diverticulum following blunt trauma to the abdomen can be challenging due to its low incidence and difficulties while making the diagnosis.

Priapism in Scorpion Stings within the Kingdom of Saudi Arabia: A Case Report

We report a 2-year-old Saudi boy who presented with an acute onset of asymmetric pulmonary oedema, moribund state and priapism. He was living in the desert and was referred to our hospital during the summer. He was mislabelled as a patient with sickle-cell disease as a very high number of patients come with a crisis of same presentation, and haemoglobinopathies are not uncommon in the Kingdom of Saudi Arabia. On careful examination of the child, there were multiple tiny lesions on both of his feet and abdomen which led to high suspicion of scorpion stings. The index of suspicion was high due to two reasons;(i) it was the summer, during which the incidence of scorpion stings is high and, (ii) the child was habitated in the desert area where scorpions are common. The child was successfully salvaged with symptomatic support and the specific anti-venom was given. The presen- tation of severe or heavy scorpion intoxication mimics the presentation of sepsis.

A 6-Year-Old Saudi Boy with Myotonia Congenita

Background: myotonia congenita is an inherited form of myotonia that is due to mutations in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident by clinical exam and myotonic discharges on electromyogram. Two forms of myotonia congenita are recognized: autosomal recessive (Becker variant) or autosomal dominant (Thomsen variant). The recessive form tends to be more severe and has an earlier onset than the dominant one. The dominant form varies in severity from asymptomatic to moderately severe. These two forms may be distinguished by clinical presentation, inheritance pattern and age of onset. Methods: we described the clinical presentation and genetic testing results of one individual with the autosomal recessive variant of myotonia congenita. Results: the initial diagnosis was made based on the clinical presentation then it was confirmed based on electromyographic findings of myotonic discharges and CLCN1 gene sequencing which revealed homozygous disease-associated C ->A transverse mutation. The patient achieved a modest response to treatment with phenytoin, carbamazepine or acetazolamide. His condition remained stable with minimal weakness and muscle hypertrophy. Conclusions: myotonia congenita is a rare genetic disorder of muscle relaxation. The diagnosis is made based on clinical features and is confirmed by sequencing CLCN1 gene. Response to treatment is variable. Recommended medications included mexiletine, phenytoin, carbamazepine and acetazolamide among others.

A 9-year-old Saudi Boy with Cleidocranial Dysplasia: A Case Report

Cleidocranial dysplasia (CCD) is an uncommon disorder associated with a genetic disorder mainly causing dysplasia of bones and teeth with autosomal dominant inheritance pattern, which has an extremely varied presentation. The dental indicators are principally delayed exfoliation of primary teeth and delayed eruption of permanent teeth, and numerous impacted supernumeraries. This article represent a 9 years old Saudi boy case of CCD and illustrates the clinical and radiological features of this patients. In this case the early diagnosis of the condition was not associated with proper orientation of the dental treatment to offer better quality of life to patient.

Brugada syndrome in a 4-year-old child with Lemierre syndrome—A case report

Brugada syndrome is a rare arrhythmogenic disease with characteristic electrocardiogram (ECG) findings. Fever represents an important triggering factor. We report the case of a 4-year-old Saudi boy who was diagnosed with Lemierre syndrome and subsequently developed Brugada syndrome.

A newly identified novel variant in the\xa0CSF2RA gene in a\xa0child with pulmonary alveolar proteinosis: a case report

BackgroundThe congenital form of pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha gene mutations is a rare disease with only a few cases reported worldwide. In this study we report a new case of pulmonary alveolar proteinosis with a novel variant in colony stimulating factor 2 receptor alpha gene.Case presentationA 5-year-old Saudi boy presented with a history of progressive dyspnea over 6 months; he was diagnosed as having pulmonary alveolar proteinosis. A molecular study revealed a novel variation in colony stimulating factor 2 receptor alpha gene. His clinical condition showed significant improvement after whole lung lavage.ConclusionsThis case has the typical presentation of congenital pulmonary alveolar proteinosis due to colony stimulating factor 2 receptor alpha defect with a novel variant in this gene likely to be pathogenic.

Immunodeficiency, centromeric instability and facial dysmorphism Syndrome in a Saudi boy with an unusual presentation diagnosed by whole exome sequencing

Abstract Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disorder. It is characterized by variable reduction in serum immunoglobulin, sometimes combined with defective cellular immunity. We present 18 month old boy, a product of emergency C-section due to fetal distress at term with good APGAR score and low birth weight. He presented at the age of one year with history of fever, vomiting and abdominal distention complicated by colonic perforation required Laparotomy and Ileostomy. He was born to a consanguineous healthy parent (first degree cousins). Clinical examination showed failing to thrive infant dysmorphic, with low-set ears, hypertelorism, micrognathia and flat nasal bridge. No lymphadenopathy or hepatosplenomegaly. Normal muscle tone and reflexes with delayed gross motor activities. Investigations showed normal full blood count and differential, with no positive cultures, normal IgG with low IgM and IgA. Lymphocyte subset analyses and antibodies titer to Pneumococcal and Tetanus were normal. Chromosomal analysis revealed 46 XY normal male karyotype. However, pericentric breaks of chromosome 1 and 16 are observed in the majority of metaphasis, which is consistent with Immunodeficiency, centromeric instability and facial anomalies syndrome. Whole exome sequencing revealed a homozygous c2506G>A mutation in DNMT3B gene. This mutation was previously reported in only one of the three patients reported from Saudi Arabia. In conclusion, this patient had an unusual presentation for the ICF syndrome with colonic perforation which was previously not reported. In communities with high incidence of consanguinity, the possibility of ICF should be kept in mind is such cases.

Tubular duplication of the esophagus

Esophageal duplication (ED) is a rare congenital anomaly, representing 10%-15% of all foregut duplications. Neonates may present with respiratory distress, while older children usually present with dysphagia. We report here a rare case of tubular duplication of the esophagus presenting with dysphagia in a 12-year-old Saudi boy.

Healing of transverse root fracture evaluated by using cone beam computed tomography: Case report with 2 years follow-up

A human dental trauma usually occurs in young patients involving an anterior dentition. A horizontal root fracture (HRF) is uncommon, being only 0.5–7.0% of all traumatic dental injuries. A 9-year-old Saudi boy was received trauma on his face causing HRF at both right (#11) and left (#21) maxillary central incisors. The apical third of tooth #11 was fractured, and #21 was lost. Clinical and radiographic examinations investigation were done, and proper management was carried out. The patient was asymptomatic at 2 years follow-up, and the cone beam computed tomography shows good healing of the two fragments that could be done with fibrous tissue.

Langerhans cell histiocytosis mimicking a complicated mastoiditis: A review and case report

Langerhans cell histiocytosis (LCH) is a rare entity of an unknown etiology, usually reported in children. It commonly involves cranial bones mimicking an otological disease. We report a case of a 22-month-old Saudi boy who was referred to our Otolaryngology Department, in the North West Armed Forces Hospital, Tabuk, Saudi Arabia, as a case of complicated mastoiditis with a fistula that was resistant to conventional treatment. The patient underwent surgical exploration, and a biopsy confirmed the diagnosis of LCH X. The case was treated accordingly. LCH of temporal bone can be misdiagnosed and mismanaged. This, however, can be minimized by a high index of suspicion, appropriate radiological and histopathological examination.

Short Stature due to Ectopic Neurohypophysis: Case Report

Ectopic posterior pituitary is a disruption in the normal embryogenesis and is one of the rare but common causes of pituitary dwarfism. We report the MRI and clinical findings of a 13.5-year-old Saudi boy who was referred to the endocrine outpatient clinic with no significant complaints except for fatigue, exercise intolerance and short stature. Physical examination revealed short stature (below 2nd centile) with normal body proportion without any dysmorphic features and prepubertal secondary sexual characteristics and genitalia. Hormonal profile revealed: low thyroxine level, low gonadotrophins, low testosterone, low cortisol and blunted growth hormone (GH) response to insulin induced hypoglycaemia. Bone age was of 5 years old. The MRI result concluded with a diagnosis of ectopic posterior pituitary. A diagnosis of posterior pituitary ectopia (PPE) with panhypopituitarism was made.

Autoimmune Hepatitis in Children : A Case Report

Background: Autoimmune hepatitis (AIH) is considered rare, and it is even rarer in the pediatric population. AIH in the pediatric population is categorized into type 1 and 2, which are differentiated by their autoantibody profiles. Case report: 5 years old Saudi boy presented with history of jaundice, fever and dark urine for 5 days with previous similar history at the age of 3 years. Examination revealed that he was conscious, looks pale and jaundiced but not in respiratory distress and well hydrated. Abdominal examination showed hepatosplenomegaly. Anti-nuclear antibodies (ANA), antismooth muscle antibodies and anti-neutrophilantibodies were positive whereas anti platelet antibodies and anti-mitochondrial antibodies were negative. Hepatitis serology was negative. Magnetic resonant cholangiopancreatogram (MRCP) showed diffuse periportal edema, likely related to liver cirrhosis. Liver biopsy was suggesting end stage biliary cirrhosis. Diagnosis was end stage cirrhosis with biliary features secondary to autoimmune process. The patient was treated with prednisolone, ursodeoxycholic acid, Vitamin K, omeprazol and iron. He was discharged and listed on the liver transplant clinic. Conclusion: This case report highlights and alerts physicians that AIH should always be considered in paediatric patients presenting with chronic liver disease.

Management of Post-circumcision in Glanzmann`S Syndrome: Case Report and Review of Literatures

Background: Fatal bleeding episodes due to spontaneous mucocutaneous bleeding are common in Glanzmann`s Syndrome (GT). Control of such bleeding with imperative approaches remains challenging. The unanticipated rare genetic GT hematological disorder of platelet function is life-threatening particularly from the surgical interventions. It is regularly controlled by medical therapies (including; systemic recombinant factor VIIa, local anti-fibrinolytic agents and blood/platelet transfusions) and surgical therapies (including; electrocautery, laser coagulation, and embolization). Case Description and Management: We describe here, for the first time in country, an uncircumcised 10-years old Saudi boy with GT diagnosed during a regular circumcision surgical intervention for relieving phimosis due to edematous enlarged glans penis with bluish skin coloration. The post circumcision life-threatening bleeding - that necessitated redoing the surgery with deep suturing - was confirmed upon hematological consultation to be a GT bleeding disorder. Repeated transfusion of packed red blood cells reaching 8 units significantly induced effective cessation of bleeding within 24 hours, discharge within 72 and complete wound healing without complications within a week. Conclusions: Although very rare, GT should be anticipated upon surgical intervention with secured packed red blood cells, concentrated platelets and rFVIIa (the latter two were available for our case). This case report represents the first description for successful treatment of life-threatening hemorrhage in a GT patient in Saudi Arabia and molecular investigations are planned since his sisters gave a history of profuse menstruation.

Sanfilippo syndrome may go un diagnosed if not picked up during well health visit

Sanfilippo syndrome type B (Mucopolysaccharidosis IIIB) is a lysosomal storage disease resulting from deficiency of N-acetyl-glucosaminidase activity. A 12-month-old Saudi boy was presented to outpatient department in Assir Central Hospital, Saudi Arabia, with history of regression of milestone. Sanfilippo syndrome is a rare genetic disorder and can be missed easily during the routine health visit and it should be considered in the differential diagnosis of developmental delay or milestone regression and hence considering the subsequent investigation.

Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.

Glutaric aciduria type 1 (GA1) is an inherited inborn error of metabolism caused by a deficiency of the enzyme glutaryl Co-A dehydrogenase (GCDH). Here, we report a 14-month-old Saudi boy with GA1 who presented with severe dystonia and was mis-diagnosed as cerebral palsy (CP). He presented to our institute with encephalopathy following an episode of gastroenteritis. His physical examination showed dystonia and spastic quadriplegia. His investigations revealed elevated both urinary 3-hydroxy glutaric acid, and serum glutarylcarnitine. The DNA analysis confirmed homozygosity for a mutation in the GCDH-coding gene (c.482G>A;p.R161Q). This case alerts pediatricians to consider GA1 as a differential diagnosis of children presenting with dystonic CP.

Neonatal Kawasaki Disease: A Case Report

Objective: To report a case of Kawasaki disease (KD) with unusual age at presentation. Case Report: A 26-day-old Saudi boy presented with fever, irritability and poor feeding for 3 days. There was right cervical lymph node enlargement. There was mild throat congestion and bilateral congested tympanic membrane. The liver was palpable. Otherwise, there were no more abnormal physical findings. Laboratory findings revealed high erythrocyte sedimentation rate and positive C-reactive protein. The patient was admitted into an isolation room and antibiotics were started. On the 5th day, the condition of the patient deteriorated. Ampicillin was discontinued and vancomycin was started till getting the results of the culture sensitivity. On the 7th day, he developed diaper rash and fever spikes continued. On the 8th day, the patient developed swelling, redness and hotness of the right hand. Possibility of sepsis was considered and the administered antibiotics were imipenem and vancomycin, while cefotaxime was discontinued. On the 12th day, the patient developed anemia and leukocytosis. Gamma glutamyl transpeptidase was high. On the 15th day, the patient started to develop maculopapular rash on the trunk and desquamation of both hands and feet with swelling, cracked lips, bilateral conjunctival injection and unilateral neck lymph node swelling. So, the infant’s condition was clinically diagnosed as KD. Aspirin was started and 2 doses of intravenous immunoglobulins were given. On the 18th day, the condition of patient improved and the fever subsided. Conclusions: The diagnosis of KD among neonates is a clinical challenge. Diagnosis is based on clinical criteria after the exclusion of other diseases presenting with high persistent fever. Early treatment by administering intravenous immunoglobulins and aspirin can help prevent cardiac complications. There is a pressing need to raise awareness among pediatricians about this disease.

Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. In addition to the common components of BCD syndrome that involve eyelids, lip, and teeth abnormalities, this patient is the third reported BCD case with imperforate anus, the second with thyroid agenesis, and the first with lumbosacral meningomyelocele.

Gastrointestinal basidiobolomycosis: mimicking Crohn’s disease case report and review of the literature

Gastrointestinal basidiobolomycosis (GIB) is an unusual fungal infection that manifests in the skin and rarely involves other systems. All of the few cases of GIB reported so far were diagnosed with difficulty, necessitating laparotomy and resection of the inflamed part of the bowel. We report a child with GIB who was successfully diagnosed endoscopically without surgical intervention.

Diagnosed congenital hypothyroidism with missing follow-up: Is it time for a national registry?

A treatable and preventable disorder, congenital hypothyroidism (CH) is still a common cause of mental retardation. A 17-year-old Saudi boy with CH due to an ectopic thyroid gland was diagnosed by the neonatal screening program. Thyroxine replacement therapy was started for one month when the family chose to discontinue medication and follow-up. He was not then seen until 11 years of age. Thyroxine was restarted with a close follow-up, although thyroid function tests gradually improved back to normal levels, but his final height was short (159 cm) and IQ was negatively affected. Despite the diagnosis having been made at an appropriate time, patient was lost to follow up. This indicates an obvious flaw in the system for follow-up care. We recommend a registry of patients with CH to monitor their care. The aim of such a registry would be to monitor the efficiency and efficacy of neonatal screening.

A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene

Recently, Tompson et al 1 described the use of autozygosity mapping and expression studies to identify compound heterozygous mutations (c.2386G>C/c.3943G>T; c.1786dupG/c.3124G>A) in the COL11A1 gene in two unrelated patients as...