Riva Kamat, MD

This baby girl was born at 37 weeks' gestation via cesarean section, with the stomach, small bowel, proximal colon, and ovary outside the body (

). The mother, a 22-year-old gravid 1, para 0, had adequate prenatal care. The anomaly had been detected at 17 weeks' gestation. All maternal serological results were negative, as were cultures for 

 The baby weighed 2950 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively.

Gastroschisis is a rare congenital defect in the abdominal wall that results in herniation of abdominal contents; the estimated incidence is 1 in 10,000 live births.

 Unlike omphaloceles, gastroschisis typically occurs in the right paraumbilical area, as in this infant (

), and does not contain a peritoneal sac covering.

The cause is thought to be a vascular accident involving the right umbilical vein or right omphalomesenteric artery (OMA).

 The right umbilical vein normally involutes between 28 and 32 days postconception, whereas the right OMA develops into the superior mesenteric artery. Premature involution of the right umbilical vein or disruption of the distal right OMA can lead to ischemia, infarction, and necrosis of the abdominal wall in the paraumbilical region on the right side. This necrotic section allows bowel to enter the amniotic cavity.

Gastroschisis is associated with young maternal age (younger than 20 years). An association with vasoactive substances, such as nicotine, cocaine, and pseudoephedrine, has been suggested but has not been consistently demonstrated.

 (The mother of this baby reported a 1-pack-year smoking history but claimed to have ceased tobacco use throughout her pregnancy.) Associated complications include malrotation, stenosis, and atresia of the GI tract.

 The incidence of cryptorchidism is reportedly higher in infants with gastroschisis.

Diagnosis is primarily made prenatally, usually in the second trimester, via ultrasonographic findings showing an intestinal mass to the right of midline that lacks a peritoneal sac. The eviscerated bowel is cauliflower-like in appearance, with amniotic fluid found between each free-floating loop of bowel.

 An elevated maternal serum a-fetoprotein level may also suggest the diagnosis.

It is important to wrap the herniated abdominal contents with sterile saline dressings and plastic wrap to help prevent fluid loss and preserve heat and to initiate broad-spectrum antibiotic therapy. The large bowel is evacuated via saline enema, and the upper bowel is decompressed by aspirating stomach contents. The original defect is expanded 1 to 2 cm and the abdominal wall is manually stretched to minimize trauma to the bowel during reduction. In the event that primary closure is unsuccessful, staged closure using a silo may be attempted.

 Total parenteral nutrition is often necessary postoperatively because of prolonged dysmotility of the GI tract.

This infant was rushed to the neonatal ICU, where antibiotic therapy with intravenous ampicillin and gentamicin was started. The abdominal contents were successfully reduced during primary closure 5 hours after delivery. Total parenteral nutrition was advanced via a central saphenous line. 

 shows the abdomen on day 3 of life. On this day, she was extubated and was doing well.

 Martin RW. Screening for fetal abdominal wall defects. 

 Hoyme HE, Jones MC, Jones KL. Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery. 

Ultrasonography in Obstetrics and Gynecology. 

4th ed. Philadelphia: WB Saunders; 2000:489-516.

 Werler MM, Sheehan JE, Mitchell AA. Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. 

 2nd ed. Philadelphia: WB Saunders; 1983:284-287.

 Alsulyman OM, Monteiro H, Ouzounian JG, et al. Clinical significance of prenatal ultrasonographic intestinal dilatation in fetuses with gastroschisis. 

 Saller DN Jr, Canick JA, Palomaki GE, et al. Second-trimester maternal serum alpha-fetoprotein, unconjugated estriol, and hCG levels in pregnancies with ventral wall defects. 

 Olesevich M, Alexander F, Khan M, Cotman K. Gastroschisis revisited: role of intraoperative measurement of abdominal pressure. 

Articles

This baby girl was born at 37 weeks' gestation via cesarean section, with the stomach, small bowel, proximal colon, and ovary outside the body

Gastroschisis

This 14-month-old girl was brought for evaluation of marked swelling and erythema of the left eyelids (

). The mother had noticed a green discharge and mild swelling of the eye 2 nights earlier. The swelling had progressed and now completely obscured the eyeball. For the past week, the child had greenish rhinorrhea and cough. She had been afebrile and was eating well without emesis. She had no history of facial trauma or insect bite. Her father and sibling currently had infections of the upper respiratory tract and eye.

Examination revealed erythema and eyelid edema and pain around the left eye. No conjunctival injection or proptosis was noted. Extraocular muscles were intact. Nasal turbinates were swollen, and there was clear rhinorrhea. Tympanic membranes and throat findings were normal.

The child has orbital cellulitis. This cellulitis involves the soft tissue posterior to the orbital septum and is the least common cause of “swollen eye.”

 Its distinguishing features include hyperemia of the skin, edema of the eyelids, conjunctival edema, orbital pain, proptosis (with the globe usually displaced anteriorly and downward), and limitation of ocular movements (especially upward gaze).

Orbital cellulitis may follow trauma or surgery or may be secondary to the spread of sinusitis-the suspected cause in this patient. Diabetes and immunosuppression are important risk factors. Causative organisms include Staphylococcus aureus, Streptococcus pneumoniae, Streptococcus pyogenes, Haemophilus influenzae, Moraxella catarrhalis, and anaerobes of the upper respiratory tract.

 Methicillin-resistant S aureus (MRSA) is responsible for an increasing number of intraocular infections

 and warrants particular attention when choosing antibiotic therapy because of its increased potential for tissue invasion. Orbital cellulitis caused by MRSA can lead to irreversible blindness when left untreated.

When orbital cellulitis is suspected, a CT scan of the orbits with contrast must be obtained to rule out subperiosteal abscess. This is the most common complication, and it can increase the likelihood of vision loss via direct optic nerve pressure.

 In this case, an orbital CT scan revealed inflammation; no fluid was present to suggest an abscess (

Antimicrobial regimens for orbital cellulitis include ampicillin/sulbactam or cefuroxime, with addition of metronidazole or clindamycin when anaerobes are suspected. 

Prompt operative drainage is warranted in patients with no clinical improvement after 48 to 72 hours of therapy, worsening symptoms after initial improvement, or an abscess.

Preseptal, or periorbital, cellulitis involves the soft tissue anterior to the orbital septum. This cellulitis is characterized by swelling of the eyelids.

 It may be caused by direct spread of localized infection-conjunctivitis, hordeolum, dacryoadenitis, and dacryocystitis-or by hematogenous spread of nasopharyngeal pathogens. Infants and toddlers are especially prone to periorbital cellulitis caused by dacryocystitis.

 Rarely, preseptal cellulitis is secondary to infected sites of trauma (eg, insect bites) and impetigo.

 Bacteremic preseptal cellulitis often occurs in children younger than 18 months and can be distinguished from other causes by its rapid progression and the presence of a high fever. Preseptal cellulitis that presents as a complication of paranasal sinusitis commonly occurs in children older than 2 years who have had a viral upper respiratory tract infection for several days. These children usually have an unremarkable white blood cell count and negative blood cultures.

Treatment includes drainage of suppurative material for Gram stain and culture and intravenous antibiotics. Nafcillin (for posttraumatic causes) or cefuroxime (for other infectious causes) is used initially unless results of Gram stain and culture suggest otherwise.


 1. Wald ER. Periorbital and orbital infections. 

. 2007;21:393-408, vi.
2. Freidlin J, Acharya N, Lietman TM, et al. Spectrum of eye disease caused bymethicillin-resistant Staphylococcus aureus. 

. 2007;144:313-315.
3. Rutar T, Zwick OM, Cockerham KP, Horton JC. Bilateral blindness fromorbital cellulitis caused by community-acquired methicillin-resistant Staphylococcusaureus. 

 2005;140:740-742.
4. Jones DB, Steinkuller PG. Strategies for the initial management of acute preseptaland orbital cellulitis. 

. 1988;86:94-108; discussion108-112.
5. ZaldÃ­var RA, Buerger DE, Buerger DG, Woog JJ. Office evaluation of lacrimaland orbital disease. 

This 14-month-old girl was brought for evaluation of marked swelling and erythema of the left eyelids (A) The mother had noticed a green discharge and mild swelling of the eye 2 nights earlier.

Orbital Cellulitis

A 20-month-old boy brought to the emergency department with swelling on the right side of the neck and fever (temperature, 39.3°C [102.7°F]) of 1 day's duration. The parents reported that the child had had intermittent fevers and poor weight gain for the past 3 months but no vomiting, diarrhea, rash, drooling, or difficulty in swallowing.

Patient had had pneumonia 3 times since birth. Two maternal cousins had chronic granulomatous disease. No family history of travel outside the United States.

Temperature at the time of admission, 37°C (98.6°F); heart rate, 132 beats per minute; respiration rate, 43 breaths per minute; oxygen saturation, 100% while breathing room air; and blood pressure, 95/51 mm Hg. Weight, 9.4 kg; height, 76.5 cm; and head circumference, 46 cm (all growth parameters less than the 5th percentile).

Soft, 3 × 2-cm mass on the right side of the neck, mildly tender on palpation. Large anterior cervical lymph nodes on the right side. Lungs, clear to auscultation. Heart rate and rhythm, regular without murmurs. Abdomen soft, nondistended, without hepatosplenomegaly.

White blood cell count, 16,700/μL; hemoglobin level, 8.6 g/dL; hematocrit, 27.5%; platelet count, 409,000/μL. CT scan of the neck revealed a large mass (possibly a collection of infected lymph nodes), bilateral cervical adenopathy, and possible fluid in the retropharyngeal space.

Intravenous clindamycin started for coverage for gram-positive and anaerobic organisms. Child became febrile over the next 48 hours. Incision and drainage of the mass was performed. Culture of the lymph nodes grew 

Children with chronic granulomatous disease cannot generate microbicidal superoxide and reactive oxygen species (hydrogen peroxide, hydroxyl anion and hypochlorous acid) from oxygen in their phagocytes because of an inherited defect of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system. This leads to a reduced ability to fight off infections produced by catalase-positive organisms, such as 

 Microorganisms are phagocytosed normally but persist within phagocytic cells. The resulting foci stimulate granuloma formation. Affected children present with recurring infections, such as pneumonia, pyoderma, abscesses, suppurative adenitis, osteomyelitis, bacteremia, and fungemia.

The incidence is 1 in 200,000; the mean age at diagnosis is 3 years for children with the X-linked forms (70% of cases) and 7 years for children with the autosomal recessive forms.

Chronic granulomatous disease can be diagnosed with a nitroblue tetrazolium (NBT) test. This determines the percentage of phagocyte NADPH oxidase activity. Another option is the dihydrorhodamine 123 flow cytometry test, which is a quantitative determination of phagocyte reactive oxygen production. In utero diagnosis of chronic granulomatous disease is also possible.

A definitive diagnosis of chronic granulomatous disease can be made when the patient has an abnormal NBT test/dihydrorhodamine 123 flow cytometry test result and 1 of the following criteria:

A probable diagnosis can be made when the patient has an abnormal NBT test result and 1 of the following criteria:

The basis of the management of chronic granulomatous disease includes early diagnosis and treatment of infections, prophylactic antibiotics, and interferon-γ.

Acute infections must be diagnosed and treated promptly with parenteral antibiotics and usually require several weeks of treatment. Antibiotics chosen should cover a broad spectrum of gram-negative bacteria, 

 species. Intravenous antibiotic therapy must be followed by prolonged oral therapy, sometimes for months. Fungal infections should be treated with appropriate antifungal therapy. In addition, surgical procedures, such as drainage of abscesses and excision of consolidated suppurative and granulomatous lesions, may be required.

Affected patients should receive all routine immunizations as well as yearly influenza vaccine; however, BCG vaccine should be avoided. Daily prophylaxis with trimethoprim/sulfamethoxazole is required, because it has been shown to decrease the incidence of bacterial infections without increasing the incidence of fungal infections. Trimethoprim or cephalosporins may be used in patients with sulfa allergies.

 Interferon-γ is also recommended. Although its mechanism of action is not fully understood, it may involve an increase in oxidantindependent antimicrobial pathways.

Hematopoietic stem cell transplantation can restore normal neutrophil function and can be curative.

 T-cell depletion of the graft has resulted in a decreased incidence of graft versus host disease. The best response in studies was obtained when patients were pretreated with parenteral antibiotics and antifungals before transplantation. However, because of the high mortality associated with this procedure, it is reserved for patients in whom all other therapies fail.

Ongoing trials of gene therapy seem promising since the exact genetic defect has been determined.

The prognosis has improved dramatically with current treatment. The median survival is 20 to 25 years, and the mortality rate is 2% to 3% per year. Patients with the X-linked form usually have more severe disease than those with autosomal recessive disease.


 Figure – Decreased swelling of the neck mass was noted in the child 14 days after the initiation of antibiotic treatment. Results of a dihydrorhodamine 123 flow cytometry assay were consistent with chronic granulomatous disease.

Results of a dihydrorhodamine 123 flow cytometry assay were consistent with the X-linked form of chronic granulomatous disease. Clindamycin was discontinued and intravenous piperacillin/tazobactam and oral trimethoprim/sulfamethoxazole were started. The neck mass gradually decreased in size (

). When the patient defervesced, a percutaneous catheter was placed for completion of a 2-week course of intravenous antibiotic therapy at home.

The child is currently being monitored by infectious disease and immunology specialists. He will undergo evaluation for eventual hematopoietic stem cell transplant.

 Boxer LA. Disorders of phagocyte function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. 

. 18th ed. Philadelphia: Saunders Elsevier; 2007:chap 129.

 Winkelstein JA, Marino MC, Johnston RB Jr, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. 

 Chien SC, Lee CN, Hung CC, et al. Rapid prenatal diagnosis of X-linked chronic granulomatous disease using a denaturing high-performance liquid chromatography (DHPLC) system. 

 Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). 

A 20-month-old boy brought to the emergency department with swelling on the right side of the neck and fever (temperature, 39.3°C [102.7°F]) of 1 day’s duration. The parents reported that the child had had intermittent fevers and poor weight gain for the past 3 months but no vomiting, diarrhea, rash, drooling, or difficulty in swallowing.

Fever and Neck Swelling in a Toddler With Growth Delay

A 7-year-old boy was brought for evaluation of a nonpruritic, nonpainful, evolving polymorphic rash that began on the torso and spread to the extremities, face, palms, and soles over a 2-week period. He had been otherwise healthy and had no history of constitutional symptoms.

The child appeared nontoxic and was afebrile. Crops of reddish, scabbed vesicular lesions with scale were noted on his face, chest, back, and upper and lower extremities. All other physical findings were unremarkable.

The differential diagnosis included varicella, herpes simplex infection, drug reaction, and viral exanthema.   Biopsy of skin lesions revealed spongiosis and necrotic keratinocytes with lymphocytic infiltrates, consistent with pityriasis lichenoides et varioliformis acuta (PLEVA).

PLEVA (also known as Mucha- Habermann disease) is a rare clonal T-cell lymphoproliferative disorder. It is considered benign; however, an association with T-cell lymphoma has been reported. Although most common in the second and third decades of life, PLEVA can occur in children, predominantly in males. The lesions typically begin as papules that then become vesicular; over the next several weeks, they undergo hemorrhagic necrosis.

This patient was treated with triamcinolone cream and methotrexate. Alternative therapies include oral antibiotics, topical immunomodulators, and UV light therapy. Although these treatments can reduce the appearance of the lesions and induce remission in many children, about three-fourths of patients have a chronic relapsing course. This patient's rash resolved with continued treatment. He was referred to a dermatologist for follow-up.

Riva Kamat, MD

Articles

Gastroschisis

Orbital Cellulitis

Fever and Neck Swelling in a Toddler With Growth Delay

Pityriasis Lichenoides Et Varioliformis Acuta in a 7-Year-Old Boy