Size Matters: Point-of-Care Ultrasound in Pediatric Appendicitis.

Ultrasound is the initial diagnostic modality of choice for evaluation of pediatric appendicitis. We report a case that highlights the importance of pain control, distraction, focusing on the appearance of the appendix and the surrounding structures, the value of size cutoff points for appendicitis, and repeating ultrasound examinations to optimize yield.

7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review.

The oculoauriculovertebral spectrum or Goldenhar syndrome is characterized by varying degrees of prevalently unilateral underdevelopment of the craniofacial structures (orbit, ear, and mandible) in association with vertebral, cardiac, renal, and central nervous system defects. We report on a term neonate with a partial monosomy 7q21.11 with marked hemifacial microsomia, facial clefting, and spinal anomaly. The estimated size of the monosomic region of 7q21.11 was approximately 55 kilobases. This is the first report of a patient with partial monosomy 7q21.11 associated with oculoauriculovertebral spectrum.

Clival encephalocele and 5q15 deletion: a case report.

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.

Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature.

While sigmoid volvulus is commonly seen in older patients, it is rarely encountered in children and younger adults. Consequently, heightened awareness of this entity is required to avoid a delay in diagnosis. Among the pediatric and adult cases of colonic volvulus previously reported in the English literature, 23 of the affected individuals have also been diagnosed with Hirschsprung disease (HD). This report describes a 12-year-old male with a history of chronic constipation who presented with vomiting and abdominal distension and was found to have sigmoid volvulus with previously unrecognized HD. The case presentation is followed by a review of the literature describing colonic volvulus secondary to HD in children.

A gelatinous human tail with lipomyelocele: case report.

We report a female infant who presented with a tail appendage bearing a gelatinous tip and an associated lipomyelocele. Magnetic resonance images revealed the presence of spina bifida and a tract in continuity from the tail to the conus medullaris. The tail was surgically removed. A human tail may be associated with underlying spinal dysraphism. Magnetic resonance or computed tomographic imaging is required in such cases for complete evaluation. This is the first case report of gelatinous-tip human tail.

Four-vessel umbilical cord associated with multiple congenital anomalies: a case report and literature review.

A case is described of a neonate with a four-vessel umbilical cord containing two arteries and two veins. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including a complete atrioventricular canal, an interrupted inferior vena cava, a double superior vena cava, a left ventricular hypoplasia, dextrocardia, situs ambiguous, and malrotation of the small bowel. The birth of an infant with a four-vessel cord mandates comprehensive work-up for associated anomalies. The literature is reviewed.

Neck pain and stiffness in a toddler with history of button battery ingestion.

BACKGROUND: Button batteries within the gastrointestinal system are dangerous and must be suspected after any foreign body ingestion. Common complications include esophageal perforation, fistula formation, and esophageal scarring. OBJECTIVES: Spondylodiscitis resulting from button battery ingestion is extremely rare and, to our knowledge, has been described in the literature only once to date. CASE REPORT: We will describe a case in which a 14-month-old girl developed spondylodiscitis of T1/T2 after an uncomplicated clinical course involving the ingestion and removal of an esophageal button battery. Discussion will include mechanisms in which button batteries cause harm and notable differences between the previously reported case and ours. CONCLUSIONS: We present this case to increase awareness of spondylodiscitis in patients with neck pain or stiffness and a history of button battery ingestion.

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.

We report on a 15-month-old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be approximately 3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3.

Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum.

Calcified intraluminal meconium is a rare finding in newborn infants. It is often associated with communication between the urinary and gastrointestinal tracts. Intra-abdominal calcifications are unusual radiographic findings in the newborn and can easily be misinterpreted as meconium peritonitis. We report on a newborn infant with anorectal malformation, meconium balls, intraluminal calcifications, colpocephaly, and agenesis of the corpus callosum, a rare association.

Fracture of a Broviac catheter in a low-birth-weight infant.

Central venous catheters are widely used in children, particularly in very-low-birth-weight infants in whom long-term access to the venous system is required. This may be achieved by using peripherally inserted central catheters or tunnelled central venous lines (eg Broviac or Hickman lines). Previous case reports of fractured central catheters in premature neonates have involved peripherally inserted silastic catheters. Fractures and embolisation of Broviac central venous fragments have not been previously reported in preterm neonates. We describe a premature neonate with this rare complication along with the retrieval technique used.

Choroid plexus hyperplasia and monosomy 1p36: report of new findings.

Monosomy 1p36 is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. It is now considered to be one of the most common subtelomeric micro-deletion syndromes. This article reports new findings of choroid plexus hyperplasia and dextrocardia with situs solitus in a patient who had deletion of chromosome 1p26.33 with a brief review of the literature.

Primary ovarian leiomyoma: a rare cause of ovarian tumor in adolescence.

A pediatric case of ovarian leiomyoma is presented. A review of the literature indicates that, in contrast to older patients, pediatric/young adult patients usually present with bilateral disease and do not have associated uterine leiomyomas.

A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia.

Familial cases of the various types of intestinal atresia are well described, and we now report an additional family. Based on a review of the literature, a classification system for the different types of familial atresia is presented. Current teaching attributes most jejunoileal atresias to in utero vascular accidents occurring relatively late in gestation (after the 11th or 12th week). Although some cases clearly occur this way, as a result of processes such as volvulus and intussusception, knowledge of the familial form of the disease indicates that most cases of jejunoileal atresia actually result from disruption of a normal embryologic pathway, most likely the development of the superior mesenteric artery and its branches. They should be considered to be true embryologic malformations rather than acquired lesions.