Recurrent pulmonary infections as the first manifestation of cow milk intolerance: a rare case report from Syria.

Cow milk protein intolerance is a common gastrointestinal condition in the first year of life. It is mainly manifested as gastrointestinal and dermatology symptoms. It rarely presents as a respiratory manifestation only without other accompanying symptoms. We report a case of a 5-month-old Syrian boy who presented with a history of recurrent acute bronchitis symptoms (cough, wheezing, tachypnea) for 3 months with no significant personal or family history. Hematological and radiographic investigations were normal. The diagnosis of cow milk intolerance was confirmed by clinical, endoscopically, and histological findings. The child was placed on amino acid hydrolysate milk with restricted cow products. The child improved significantly, and chest symptoms improved within a week of the treatment. Despite the rarity of cow milk intolerance in children with only respiratory symptoms, it should be kept in mind when the patient has recurrent pulmonary infections that are not improving on appropriate therapy.

Colonoscopy for foreign body retrieval in ileocecal valve: a rare case report.

Foreign body (FB) ingestion is a common emergency among the pediatric population. They usually pass spontaneously through the gastrointestinal (GI) tract. In rare cases, it may cause complications because of the impaction. That depends on the type of an FB, its location, the patient's age and the duration of impaction. Colonoscopy as management of FB ingestion in the ileocecal valve (IC) is rare in the medical literature review. Herein, we reported a case of an FB (thin needle-shaped FB 4 cm long) in the IC that was removed from the IC by colonoscopy. Although colonoscopic retrieval of impacted foreign bodies at the GI tract in children has been rarely reported in the literature review, it may be helpful in young children to avoid invasive surgical treatment.

The association between acute brucellosis with a Guillain-Barré syndrome-like presentation: a case report.

BACKGROUND: Brucellosis is a zoonotic disease caused by Gram-negative bacteria. It has variable manifestations (gastrointestinal, hepatobiliary, skeletal). Neurobrucellosis may develop at any stage of the disease (acute, subacute, and chronic phases) and affects the central and peripheral nervous systems. Acute peripheral neuropathy mimicking Guillain-Barré syndrome caused by brucellosis is rarely reported: only four cases in children were found in the literature review. CASE PRESENTATION: We report a case of a 4-year-old Syrian boy who presented with fever, weakness of lower limbs, backache, and fatigue. The patient lived in a brucellosis endemic area. A physical examination including a neurological examination showed mild paresthesia and muscle weakness. He had a stiff neck with Kernig's sign with an absence of deep tendon reflexes in the lower extremities. Proprioception in the lower extremities was impaired, but he did not have any sensory problems. Abdominal cutaneous reflexes were absent. Brucellosis and Guillain-Barré syndrome were found in laboratory investigations and on electroneurogram (ENG). The patient was treated with sulfamethoxazole + trimethoprim, rifampicin, gentamicin, and dexamethasone, with an improvement. CONCLUSION: This case demonstrates a rare case of brucellosis neurologic manifestation. Brucellosis should be kept in mind in all patients with acute paralysis, especially in those who live in endemic areas.

Salmonella typhi: a rare cause of neck abscess.

Salmonella typhi neck abscess represents a rare cause of focal salmonellosis. Most of the cases in the literature reviews were reported in immunosuppression adults; just two of them were in children. Herein we report a case of 7-year old healthy girl with a neck abscess caused by S. typhi. The patient was diagnosed according to serological and radiological findings. Incision and drainage of the abscess accompanied by broad-spectrum antibiotics were performed for treatments. S. typhi should be kept in mind as a cause of neck abscesses.

Bobble-head doll syndrome in an infant with an arachnoid cyst: a case report.

BACKGROUND: Bobble-head doll syndrome is a rare and unique movement disorder most commonly affecting children younger than 5 years of age. It is characterized by continuous or episodic movement at the frequency of 2-3 Hz. The exact mechanism of bobble-head doll syndrome has not been elucidated. Endoscopic ventriculocisternostomy is the optimal treatment option. In a literature review, there were less than 75 cases of bobble-head doll syndrome with suprasellar arachnoid cyst. CASE PRESENTATION: We report a case of a 1.5-year-old Asian-Syrian girl who presented with a history of excessive head nodding for 3 months that increased with walking, emotions, and stress; decreased during periods of concentration; and was absent during sleep. On physical examination, she was alert and normal, with no medical history. Laboratory assessment and ophthalmological examination were normal. Cranial magnetic resonance imaging demonstrated a well-defined thin-walled suprasellar arachnoid cyst measuring 3 × 5 × 7 cm that obstructed the foramina of Monro, with resulting hydrocephalus ventriculomegaly. The patient underwent endoscopic cystoventriculostomy and cystocisternostomy for the suprasellar arachnoid cyst. During the 6 months of follow-up, the head bobbing disappeared completely, and her growth was normal. CONCLUSION: Despite the rareness of bobble-head doll syndrome, it is considered an important condition that must be investigated early to detect the cause and treated promptly to avoid potential complications.

Severe Esophageal Stricture Post Accidental Corrosive Substance Ingestion: A Case Report of Balloon Endoscopic Dilation.

Corrosive substance ingestion is a very serious home accident, mostly common in developing countries. It frequently causes esophageal burns in the acute stage and esophageal stricture, stenosis, and even cancer in the chronic stage. Severe cases of caustic esophagitis may require esophageal replacement. We describe a case of balloon endoscopy dilation in a two-year-old girl with a severe stricture of the esophagus resulting from accidental ingestion of a corrosive substance (strong alkaline liquid) which helped the patient preserve the esophagus and prevent esophageal replacement. We describe the clinical complication and development during the treatment.

Clear cell sarcoma of the kidney with inferior vena cava thrombus: a case report.

BACKGROUND: Clear cell sarcoma of the kidney is an uncommon pediatric renal malignant neoplasm that is typically characterized in 2-3-year-olds by aggressive behavior and late relapses. Our literature review revealed fewer than ten previously reported cases of CCSK with inferior vena cava thrombus, with only five in the pediatric age group. CASE PRESENTATION: We report the case of a 14-year-old Syrian girl who complained of mild pain in the left lumbar region pain with hematuria. On physical examination, a mass was palpated in the left flank. Abdominal ultrasonography revealed a left renal mass (7 × 5 × 2 cm3), associated with dilatation of the left renal vein. Contrast abdominal computed tomography showed a mass measuring 7 × 5 × 3 cm3 with the presence of thrombus extending into the inferior cavity down to the right atrium that was initially diagnosed as Wilms' tumor. Radical right nephrectomy with excision of the thrombus was undertaken. Histological immunostaining revealed a diagnosis of the tumor as clear cell sarcoma with vascular tumor thrombus extending to the inferior vena cava. CONCLUSION: Clear cell sarcoma and Wilms' tumor are similar in terms of typical age of appearance, clinical features, and histopathology, but with different methods of treatment and prognosis. The differential diagnosis of such masses is thus very important. We present the case of a patient with clear cell sarcoma with unusual age, with complete removal of the thromboses in the inferior vena cava and the right atrium.

Primary Multifocal Recurrent Urinary Bladder Amyloidosis: A Rare Case Report from Syria.

Primary urinary bladder amyloidosis is a rare disorder of protein metabolism characterized by the extracellular deposition of fibrillin. To date, fewer than 200 cases have been reported in the literature. We herein present a case of 59-year-old female with primary multifocal recurrent urinary bladder amyloidosis. The patient was treated with a new method (laser therapy) mentioned for the first time in the literature. After 18 months of treatment, the patient has no complaints. Our case illustrates a new procedure in the treatment of primary multifocal bladder amyloidosis.

Severe dyslipidemia associated with diabetic ketoacidosis in newly diagnosed female of type 1 diabetes mellitus.

Diabetic ketoacidosis (DKA) is considered as a serious complication of type 1 diabetes mellitus in pediatrics. Severe dyslipidemia in DKA is a rare eventuality. We report on a 10-year-old female presented with severe DKA. The serum was lipemic with severe hypertriglyceridemia and hypercholesterolemia. Laboratory workup: the values of glycemia, sodium and HbA1c were misleading; a method of dilution was used to obtain the correct values. Triglyceride and cholesterol returned gradually to normal levels only with the management of DKA without any complication. Mild dyslipidemia is a common feature in DKA, but severe dyslipidemia is a very rare event whose pathophysiology is not completely elucidated. It needs close surveillance because it might be responsible for acute pancreatitis and lipidemia retinalis.

Massive hematemesis and melena stool: A case report of unusual manifestation of Cow's milk protein intolerance.

Cow's milk protein intolerance (CMPI) is a common condition that causes gastrointestinal bleeding in the first year of life. It is the most common cause of chronic blood loss and anemia; however, severe massive hematemesis is an uncommon condition. Herein, we present a case of severe massive hematemesis with melena stool in a six-month-old boy with cow's milk protein intolerance. In this case, we described management used in poor developing countries.

Chylomicron retention disease caused by a new pathogenic variant in sar1b protein: a rare case report from Syria.

BACKGROUND: Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation. CASE PRESENTATION: We report a case of a 19-month Syrian boy who presented with vomiting, growth failure, and chronic, fatty diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of sar1b protein. The patient is treated with nutritional supplements and fat-soluble vitamin supplementation resulting in significant improvement. CONCLUSION: Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.

Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family.

Laron syndrome (LS) is a rare autosomal recessive disorder characterized by dwarfism and typical facial phenotype. This report is the first to present three cases of Laron syndrome affecting three female siblings from Syria. The index case presented at age of 8.5 years with severe short stature: low level of Insulin-like growth factor 1 (IGF-1), elevated levels of fasting and post-stimulation growth hormone (GH), consistent with the diagnosis of Laron syndrome. At the age of 9.5 years, she developed non-autoimmune subclinical hypothyroidism treated with Levothyroxine, then she developed dyslipidemia at the age of 11.3 years. Later, we identified two female siblings of the patient with Laron syndrome. Laron syndrome is a rare genetic disease, reporting of new cases of this rare syndrome must encourage pediatricians to develop high clinical suspicion if faced with patients with very short stature and typical facial features.

Functional Adrenocortical Adenoma in a Child with Beckwith-Wiedemann Syndrome.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital condition characterized by complex overgrowth of different body parts. Children with Beckwith-Wiedemann syndrome, particularly those with hemihypertrophy, experience an increased risk of developing benign and malignant tumors. This case report presents an 18-month-old girl with features suggestive of Beckwith-Wiedemann syndrome who developed pubic hair, high levels of testosterone, and DHEAS with normal cortisol and progesterone levels. Computed tomography revealed a left adrenal mass. Histopathological examination of the resected mass showed an adrenocortical tumor. Her postoperative evaluation showed normal testosterone and DHEAS levels. Early diagnosis and detection of intra-abdominal neoplasms in infants with Beckwith-Wiedemann syndrome are essential to avoid serious clinical complications.

Recurrent pulmonary infections as the first presentation of Letterer Siwe disease.

Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology that affects several organs. The fatal type of Langerhans cell histiocytosis is called Letterer Siwe disease (LSD) which is multisystem with a poor prognosis. Herein, we report a 20-month-old male who was admitted for recurrent pulmonary infections at the age of 10 months. Diagnostic workup revealed a Letterer-Siwe disease. The patient was treated with a good response.

An unusual case of chronic abdominal pain: an association between Celiac disease and Crohn's disease.

Inflammatory bowel diseases (IBD) and Celiac disease (CeD) are immune-mediated gastrointestinal diseases with incompletely understood etiology. Both diseases show a multifactorial origin with a complex interplay between genetic, environmental factors, and some components of the commensal microbiota. The coexistence of celiac disease with Crohn's disease is rarely reported in the literature. Here, we report a case of a 13-year-old Syrian male who presented with a history of abdominal pain, anorexia and pallor. CeD and Crohn's disease was documented on gastrointestinal endoscopy and histological study. The patient was treated with a gluten-free, low fiber, high caloric diet, and a course of oral corticosteroids with an improvement in growth rate and abdominal pain.

Cystic fibrosis and coeliac disease: a case report of an unusual association.

Coeliac disease (CD) and cystic fibrosis (CF) are well known as the most common causes of chronic intestinal malabsorption in childhood. The coexistence of coeliac disease with cystic fibrosis is uncommon. Here, we describe the case of cystic fibrosis in a patient diagnosed with coeliac disease who failed to respond clinically to a gluten-free diet and had persistent steatorrhea and failure to thrive.

An unusual case of seizures in a 5-year-old Syrian female with abdominal tuberculosis: an isoniazid therapeutic dose side effect.

Isoniazid (INH) is highly bactericidal against replicating tubercule bacilli and is involved in all antituberculous chemotherapeutic regimens. Several neurological adverse effects, following both therapeutic and overdose use of INH, have been reported in adults in the literature. Here, we present a case of a 5-year-old girl with intestinal Tuberculosis, who developed hemiclonic seizure as a side effect of INH therapeutic dose after 2 weeks of tuberculosis therapy.

Juvenile idiopathic arthritis in a premature baby: rare case report.

Juvenile idiopathic arthritis (JIA) is chronic arthritis in children and adolescents. It is clinically diagnosed, which includes children under the age of 16 with arthritis for at least six weeks. Cases younger than six months of age are extremely rare. Here we report a rare case in the literature about Juvenile idiopathic arthritis in a premature baby, presenting at 21 days of age. The diagnosis was made according to clinical symptoms, laboratory analyses and duration of disease.

An unusual cause of appendectomy in a child (a sharp pin trapped in the appendix): a case report.

Foreign bodies' (FBs) ingestion is a common problem among children and the psychologically deranged. Ingested FBs usually pass through the alimentary tract without any incident. They can rarely be placed in the appendix and may cause problems. Here we report a case of an appendectomy with no signs of inflammation indicated for a sharp metallic foreign body trapped in the appendix of a 13-year-old Syrian girl. The diagnosis was made through serially abdominal X-rays and abdominal ultrasound.