Randall D. Craver

Fatal Cerebral Herniation After Lumbar Puncture in a Patient With a Normal Computed Tomography Scan

Cerebral edema and resulting elevated intracranial pressure (ICP) is a well-known complication of acute pyogenic meningitis.1,,2 A diagnostic lumbar puncture (LP) may then precipitate herniation or coning of the brain, often with fatal outcome.3–8 A computed tomography (CT) scan of the brain is therefore recommended before LP whenever raised ICP is suspected, particularly if the possibility of a mass or space-occupying lesion exists.9–11 We describe a 15-year-old adolescent with bacterial meningitis with a normal CT scan who developed signs of herniation immediately after a subsequent LP. To the best of our knowledge this is the second documented report of herniation found at postmortem examination in a child with a normal CT scan.

Aggressive giant cell fibroblastoma with a balanced 17;22 translocation

Cytogenetic analysis of an aggressive giant cell fibroblastoma in a 15-month-old male revealed the following balanced translocation: t(17;22)(q21.33;q13.1). This is the first cytogenetic report on this early childhood tumor.

Dermatofibrosarcoma protuberans with 46,XY,t(X;7) abnormality in a child

A 9-year-old child with dermatofibrosarcoma protuberans demonstrated a balanced translocation, 46,XX,t(X;7)(q21l2;q11.2), in the untreated tumor, an abnormality not previously reported. Unlike seven of eight other reports of dermatofibrosarcoma protuberans, no ring chromosomes were present.

Presenting Features and Short-Term Outcome According to Pathologic Variant in Childhood Primary Focal Segmental Glomerulosclerosis

BACKGROUND This was a retrospective analysis of children in one center who had primary (idiopathic) FSGS. DESIGN, SETTING, PARTICIPANTS, AND MEASUREMENTS There were 41 patients: 34.1% female, 65.9% male, 80.5% black, and 19.5% white. At presentation, the mean age was 10.9 +/- 0.9 yr. The mean time of follow-up was 3.9 +/- 0.5 yr. RESULTS During the observation period, the systolic BP (SBP) and diastolic BP (DBP) remained stable, serum albumin rose slightly, and the GFR was stable. Among those who received corticosteroids at presentation, 21.2% were steroid sensitive. At last follow-up among all patients, 71% were in remission, 78% had stage 1 or 2 chronic kidney disease, and 4.9% had reached ESRD. At last follow-up, the GFR was significantly higher (P = 0.01) in patients who were initially steroid sensitive. Ethnicity had no effect on clinical data or response to therapy. The pathologic variants were as follows: Cellular, 32%; collapsing, 24%; and not otherwise specified (NOS), 44%. The chronicity scores were as follows: Cellular, 4.3; collapsing 6.4; and NOS, 4.0 (significantly higher, P = 0.02, in collapsing versus NOS). At presentation, SBP (P = 0.03) and DBP (P = 0.03) were significantly higher and GFR was lower (P = 0.03) in patients with the collapsing compared with NOS variant. Remission after the initial course of corticosteroids was less common with the collapsing variant. At last follow-up, SBP (P = 0.02) and DBP (P = 0.04) were significantly higher in patients with the collapsing versus NOS variant. CONCLUSIONS The short-term outcome in pediatric primary FSGS is generally favorable, but a more guarded prognosis exists for patients with collapsing FSGS.

Separation of hemoglobin variants with similar charge by capillary isoelectric focusing: Value of isoelectric point for identification of common and uncommon hemoglobin variants

Clinical assays for the primary evaluation of congenital hemoglobin (Hb) disorders must detect and identify a variety of Hb variants. We analyzed hemolysates containing Hb variants with similar charge to evaluate the diagnostic sensitivity and specificity of automated capillary isoelectric focusing (CIEF). Peak separation was observed for each variant in samples containing Hb S, D, and G. The calculated isoelectric points (pI) of these variants were significantly different such that each could be identified in a single run with pI as the sole criterion of identification. The pI of Hb C was significantly different from that of Hb E, C‐Harlem, and O‐Arab. Hb E, C‐Harlem, and O‐Arab had similar pI and were not readily differentiated. Hb Koln, M‐Saskatoon, Aida, and S/Aida hybrid were readily separated from common Hb variants and detected by CIEF. We conclude that CIEF exhibits both diagnostic sensitivity and specificity, and that pI is an objective and specific criterion of Hb variant identification.

Membranous nephropathy associated with childhood sarcoidosis

Abstract Sarcoidosis is a chronic multisytemic granulomatous disease of unknown etiology. It is relatively rare in children. Renal involvement in sarcoidosis is described less commonly than other organ involvement such as pulmonary, eye, musculoskeletal, and skin. We report a 13-year-old girl with sarcoidosis and nephrotic syndrome. Renal biopsy showed findings of membranous nephropathy. She received intravenous pulse methylprednisolone and oral cyclophosphamide with resolution of the symptoms of fever and edema, and improvement of the proteinuria. Her condition is stable with no progression of her renal disease. To the best of our knowledge, this is the first report of membranous nephropathy associated with childhood sarcoidosis.

Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis.

A 3-year-old boy had fever and bone pain. Magnetic resonance imaging of his femurs showed marrow replacement; iliac crest marrow biopsy revealed myelofibrosis. Although the pathologic criteria for Langerhans cell histiocytosis were not met, the clinical picture led to treatment with etoposide and methylprednisolone, without clinical improvement. One month after presentation, generalized tonic-clonic seizures occurred, and magnetic resonance imaging revealed parenchymal brain lesions. 2-chlorodeoxyadenosine was used. Because of the unexpected lack of response to etoposide and methylprednisolone, a second bone biopsy was performed. The diagnosis was revised to infantile myofibromatosis. After six courses of 2-chlorodeoxyadenosine, brain and bone lesions regressed, with resolution of the clinical symptoms.

Necrotizing Enterocolitis and Cytomegalovirus Infection in a Premature Infant

Necrotizing enterocolitis is the most common gastrointestinal emergency in neonates. The etiology is considered multifactorial. Risk factors include prematurity, enteral feeding, hypoxia, and bacterial colonization. The etiologic role of viruses is unclear. We present a case of necrotizing enterocolitis associated with cytomegalovirus and Proteobacteria in a 48-day-old, ex-premature infant and discuss the effects of potential viral-bacterial interactions on host susceptibility to this disease.

Metastatic perivascular epithelioid cell tumor of the colon in a child.

Painless hematochezia in a school-age child is the hallmark of a juvenile colorectal polyp. Rarely do malignant gastrointestinal (GI) neoplasms present with painless rectal bleeding in childhood. We describe the clinical and pathological features of a PEComa of the sigmoid colon with regional metastases in an 11-year-old boy with painless hematochezia and mild anemia. The PEComa is a recently described tumor of unknown cellular origin and low-grade malignancy characterized by both smooth muscle and melanocytic differentiation. Most cases affect adult women, and most tumors are found in the uterus (1). To the best of our knowledge, this is the first report of a metastatic PEComa involving the GI tract of a child.

Desmoplastic infantile ganglioglioma.

ABSTRACT We present the clinical, anatomic, and laboratory findings in a 4-month-old child with desmosplastic infantile ganglioglioma. Microtubule-associated protein-2 (AP18) and neuron-specific B-tubulin (TUJ-1) were more sensitive in detecting immature neural elements than synaptophysin. Despite the immature neuroblastic component, focal intermediate proliferation indices, microinvasion, presence of secondary features (extension into Virchow Robin spaces, perineuronal satellitosis), and subtotal resection, the child has done well, with striking improvement of the magnetic resonance imaging (MRI) image, head size improvement, no tumor recurrence, and minimal neurological deficits.