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Sisli Etfal Hastanesi Tip Bulteni 2021Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol...
Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.
PubMed: 34349606
DOI: 10.14744/SEMB.2020.34651 -
Indian Journal of Otolaryngology and... Dec 2023Spontaneous cerebrospinal fluid (CSF) oto-rhinorrhoea is rare and may develop secondary to inner ear malformation. Any child discharging watery fluid through nose or ear...
Spontaneous cerebrospinal fluid (CSF) oto-rhinorrhoea is rare and may develop secondary to inner ear malformation. Any child discharging watery fluid through nose or ear spontaneously in a head dependent position should be a high index of suspicion of CSF leak. If watery rhinorrhoea is present then apart from biochemical analysis of fluid discharge to confirm it to be CSF, computed tomography of paranasal sinuses and temporal bone should be carried out to differentiate between CSF oto-rhinorrhoea and CSF rhinorrhoea. Congenital deformities of the inner ear can be associated with meningitis and varying degrees of hearing loss. Here we describe two cases, one of CSF oto-rhinorrhea in a 1 year old child who presented with spontaneous watery rhinorrhoea following violent projectile vomiting of 1 month duration. On evaluation, child was found to have CSF oto-rhinorrhoea with right Mondini deformity and profound hearing loss on right side. 2nd case was of 12 years old male with profound hearing loss right ear and recurrent episodes of meningitis diagnosed as common cavity malformation of inner ear. Both children underwent closure of CSF leak from oval window successfully. There was no recurrence after more than 1 year of follow up. Congenital inner ear malformations are an important cause of recurrent meningitis in children and require a high index of suspicion for diagnosis. Thorough clinical evaluation and radiological study is suggested in all cases of CSF oto-rhinorrhoea for the identification inner ear malformation and management of CSF oto-rhinorrhoea. Patients who receive an accurate and early diagnosis can avoid severe complications and have a good prognosis.
PubMed: 37974848
DOI: 10.1007/s12070-023-04098-1 -
Emerging Infectious Diseases Aug 2021A typical clinical symptom of human norovirus infection is projectile vomiting. Although norovirus RNA and viral particles have been detected in vomitus, infectivity has...
A typical clinical symptom of human norovirus infection is projectile vomiting. Although norovirus RNA and viral particles have been detected in vomitus, infectivity has not yet been reported. We detected replication-competent norovirus in 25% of vomit samples with a 13-fold to 714-fold increase in genomic equivalents, confirming infectious norovirus.
Topics: Caliciviridae Infections; Humans; Intestines; Norovirus
PubMed: 34287131
DOI: 10.3201/eid2708.210011 -
Cureus Jun 2023We present a 22-day-old male born full term who presented with worsening non-projectile, non-bilious vomiting and failure to thrive (FTT) and was admitted to the...
We present a 22-day-old male born full term who presented with worsening non-projectile, non-bilious vomiting and failure to thrive (FTT) and was admitted to the pediatric intensive care unit (PICU) for severe metabolic acidosis with an elevated anion gap. Despite changing the formula, the patient continued to have spit-ups after feeds since birth. Before this admission, his vomiting worsened with every feed, which was now forceful along with two days of loose stools. Obstructive causes of emesis were ruled out with an upper gastrointestinal series, and a decision was made to evaluate for organic causes of FTT. Transient resolution of symptoms was noticed when the patient was placed NPO (nothing by os/mouth) briefly. His symptoms returned on resuming cow milk-based formula feeds. At this time, a presumptive diagnosis of cow milk protein allergy (CMPA) was made. Positive fecal occult blood supported the diagnosis, and his formula was changed to an extensively hydrolyzed formula (eHF). This is a case of severe CMPA with prolonged vomiting and FTT presenting with severe metabolic acidosis with an elevated anion gap. This case report highlights how CMPA can lead to severe dehydration with metabolic acidosis and increased anion gap.
PubMed: 37503473
DOI: 10.7759/cureus.40973 -
Cureus Jul 2020An 18-year-old male with a medical history of trigeminal neuralgia presented to the emergency department with complaints of severe abdominal pain associated with nausea,...
An 18-year-old male with a medical history of trigeminal neuralgia presented to the emergency department with complaints of severe abdominal pain associated with nausea, projectile vomiting, and watery diarrhea with no fever, rigors, and chills. The abdominal examination was unremarkable. His lab results showed elevated serum lipase and amylase. Gallstones were ruled out by abdominal ultrasonography. His computed tomography (CT) revealed pancreatic enlargement with ill-defined borders. He reported cocaine use but had no history of alcohol abuse. A urine drug screen was positive for cocaine. He was managed conservatively with a possible diagnosis of acute pancreatitis due to cocaine abuse after carefully ruling out other causes. The patient was symptom-free on day 7 and discharged from hospital on day 8 with follow-up with his gastroenterology doctor and drug counseling service. Although cocaine-induced pancreatitis is rare, it should be considered a differential diagnosis in patients with a history of cocaine use.
PubMed: 32775108
DOI: 10.7759/cureus.9029 -
Jornal Vascular Brasileiro Mar 2021The purpose of this article is to report the case of a 53-year-old black man, with no previous comorbidities, who presented 48 days after a confirmed diagnosis of...
The purpose of this article is to report the case of a 53-year-old black man, with no previous comorbidities, who presented 48 days after a confirmed diagnosis of COVID-19, complaining of an initially insidious epigastric pain that had progressed to severe pain radiating to the interscapular vertebral region, with hyporexia and episodes of projectile vomiting, with no nausea or fever. Laboratory tests revealed no signs of acute infection or pancreatic injury. Abdominal computed tomography showed dilated, fluid-filled small bowel loops with thickened walls. After clinical treatment, the patient developed persistent abdominal pain. An exploratory laparotomy was performed, finding two sites of small bowel stenosis, with no extrinsic cause, and signs of local ischemia and considerable distension of jejunal and ileal loops. After enterectomy and side-to-side enteroanastomosis, the patient recovered satisfactorily and was discharged with a prescription for oral anticoagulants for outpatient use.
PubMed: 34093678
DOI: 10.1590/1677-5449.200105 -
Sisli Etfal Hastanesi Tip Bulteni 2020In this study, we aim to discuss our experience with laparoscopic pyloromyotomy in patients with infantile hypertrophic pyloric stenosis (IHPS) and skills development...
OBJECTIVES
In this study, we aim to discuss our experience with laparoscopic pyloromyotomy in patients with infantile hypertrophic pyloric stenosis (IHPS) and skills development throughout our learning curve.
METHODS
We retrospectively collected data from 15 patients with IHPS who underwent laparoscopic pyloromyotomy between 2016 and 2019 in our clinic. Evolution in operation techniques, peroperative and postoperative surgical complications were analysed.
RESULTS
In this research, 15 patients (male-to-female ratio:2.7/1) were studied. The median age at presentation was 36.5 days (25-100 days). Non-bilious projectile vomiting was seen in all of the patients, and in eight cases, marked failure to thrive was seen. Situs inversus totalis was seen in one of the cases as an associated anomaly, no other anomalies were noted. A palpable olive-shaped mass was found in only 33% of infants (five cases). A patient was detected to have no IHPS peroperatively. One of the cases was converted to open technique due to peroperative technical difficulties. A patient underwent 2nd operation due to incomplete pyloromyotomy. The duration of the first and last cases was 110 mins and 35 mins, respectively.
CONCLUSION
The laparoscopic approach in patients with infantile hypertrophic pyloric stenosis can result in good postoperative outcomes and satisfying surgery in the hands of surgeons who perform minimally invasive surgery routinely.
PubMed: 33312032
DOI: 10.14744/SEMB.2018.16779 -
Pediatrics International : Official... Nov 2019I.v. atropine (IA) for infantile hypertrophic pyloric stenosis (IHPS) is a good alternative to pyloromyotomy but has not been broadly accepted. The lower success rate is...
BACKGROUND
I.v. atropine (IA) for infantile hypertrophic pyloric stenosis (IHPS) is a good alternative to pyloromyotomy but has not been broadly accepted. The lower success rate is one of the greatest disadvantages of IA. We investigated the risk factors for unsuccessful results following IA for IHPS.
METHODS
Medical records of patients with IHPS who were admitted to Kimitsu Chuo Hospital between 2002 and 2016 and were initially given atropine sulfate were retrospectively reviewed. Atropine was given i.v. (0.1 mg/kg/day in eight divided doses). Oral feeding of milk was started with a small amount and increased in a stepwise fashion to full feed. IA therapy was defined as unsuccessful in the presence of projectile vomiting more than three times a day or intolerance to a predetermined amount of milk.
RESULTS
Of the 48 patients with IHPS, 33 patients were successfully treated with IA and 15 patients needed surgical intervention. On univariate analysis the risk factors for unsuccessful IA therapy were younger age, lower bodyweight, and shorter duration of symptoms before diagnosis. On multivariate analysis age at diagnosis < 30 days was the only significant risk factor for unsuccessful IA therapy (OR, 5.7 l P = 0.03).
CONCLUSIONS
Age at diagnosis < 30 days is a risk factor for unsuccessful IA therapy in IHPS. This might be considered when IA therapy is used for neonates with IHPS.
Topics: Atropine; Digestive System Surgical Procedures; Dose-Response Relationship, Drug; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Infusions, Intravenous; Male; Muscarinic Antagonists; Prognosis; Pyloric Stenosis, Hypertrophic; Pylorus; Retrospective Studies; Risk Factors; Treatment Failure; Ultrasonography
PubMed: 31520503
DOI: 10.1111/ped.14009 -
BMJ Case Reports Mar 2022Hiccups are experienced by people of all ages. While acute hiccups are benign and self-limited, persistent and intractable hiccups can sometimes signal a serious...
Hiccups are experienced by people of all ages. While acute hiccups are benign and self-limited, persistent and intractable hiccups can sometimes signal a serious disease. We present a young previously healthy man who complained of only hiccups for 4 months and later developed a severe headache and projectile vomiting. His systemic examination was within normal limits. Brain imaging revealed a diffuse pontine glioma with mild hydrocephalus.
Topics: Brain; Glioma; Hiccup; Humans; Male; Pons
PubMed: 35292545
DOI: 10.1136/bcr-2021-247830 -
International Journal of Surgery Case... Apr 2023Ascariasis is a helminthic infection of humans caused by Ascaris lumbricoides. Pediatric patients infected with Ascaris can develop multiple complications including...
INTRODUCTION AND IMPORTANCE
Ascariasis is a helminthic infection of humans caused by Ascaris lumbricoides. Pediatric patients infected with Ascaris can develop multiple complications including appendicitis, gastrointestinal bleeding, hepatobiliary disease like cholangitis or obstructive jaundice, intussusception, and bowel obstruction among others. Ascaris is a rare cause of intestinal perforation even in endemic areas.
CASE PRESENTATION
A 2-year-old female Ethiopian toddler who was presented with a complaint of non-bilious, non-projectile vomiting of 06 days duration, about two-three episodes per day. Associated with this she had had progressive abdominal distension, intermittent abdominal cramps and loss of appetite. On examination, she was acutely sick looking. She had signs of dehydration. Subsequently, she was resuscitated, broad spectrum antibiotic started and operated. Finally, the child was discharged improved after 7 days of hospital stay.
CLINICAL DISCUSSION
The clinical presentation of ascariasis can vary from asymptomatic child to one with severe disease requiring surgical intervention like our patient. Severity of disease depends on the worm burden; heavy worm infestation produces a wide range of acute abdominal complications such as intestinal obstruction, intussusception, cholangiohepatitis, pancreatitis, and acute appendicitis. Intestinal ascariasis rarely causes volvulus and intestinal gangrene, perforation and peritonitis.
CONCLUSION
Ascariasis must be considered in the differential diagnosis in patients presented with peritonitis especially those living or from temperate and tropical countries with a history of passage of worms. Ileum perforation is possible in patients with ascariasis due to pressing directly into the bowel wall, inflammatory reaction, or volvulus and intestinal wall necrosis.
PubMed: 37015161
DOI: 10.1016/j.ijscr.2023.108097