Corticosteroid therapy reversed progressive chronic granulomatous lung disease following deterioration on interferon-gamma treatment.

We describe a patient who suffered from chronic progressive granulomatous lung disease. He had no clinical or microbiological evidence of infection. After failure of treatment with interferon-gamma and trimethoprim-sulfamethoxazole, he responded dramatically to corticosteroids.

Micropituitarism and cortical dysplasia: an unknown association of two uncommon CNS disorders.

We describe a case of two known pathologies of the CNS in an unusual association: the concomitant presentation of the micropituitarism and cortical dysplasia. To our knowledge, this association is unreported to date.

A double stomach in an adult.

Gastric duplication cysts are uncommon congenital anomalies and are rarely diagnosed in adults. We present a unique case of a communicating type gastric duplication in a young woman with the multimodality imaging findings including barium examination, CT, and endoscopy. The morphological criteria for diagnosis of duplication cyst suggested pathogenetic mechanisms for its formation as well as clinical presentation. Associated pathologies are reviewed.

Primary carcinoid tumor of the pancreas.

Serotonin-secreting (carcinoid) tumors of the pancreas are very rare. There are only 13 cases reported since 1963. Liver metastases have not previously been described. We present two patients with primary carcinoid tumor of the pancreas, which metastasized to the liver. These patients differ in their clinical and radiological appearance. Carcinoid tumor should be considered in the differential diagnosis of a pancreatic mass in a patient with carcinoid syndrome, but lack of this syndrome does not exclude the diagnosis.

Aggressive bone destruction in acute megakaryocytic leukemia: a rare presentation.

Acute megakaryocytic leukemia (AMKL) is a rare subtype of acute myeloid leukemia which is more common in children. Although the bone changes in leukemia are well documented, there are only a few reports of the AMKL subtype. We present an exceptional case of a young girl with very aggressive AMKL, who demonstrated symmetrical destructive lesions of the long bones characteristic of this disease. Lytic lesions of the skull and jaws were also present, and these have not been previously described in AMKL.

Focal bacterial nephritis (lobar nephronia) in children.

We report 13 patients with 16 episodes of acute lobar nephronia diagnosed in a prospective study that was conducted among 210 hospitalized children with urinary tract infection. In 30 episodes of urinary tract infection, a hypoechogenic or hyperechogenic lesion was found. Twenty patients underwent computed tomography, and in 16 of them acute lobar nephronia was diagnosed. Evolution to renal abscess occurred in 25%. Prolonged intravenous antibiotic treatment was sufficient in all cases.

[Acute pancreatitis: classification and study of 96 patients].

Acute pancreatitis is a multifaceted disease as expressed by its multiple etiologies, varying clinical presentations, radiological appearances and pathological changes. This variability has lead to a confusing range in terminology that has complicated the precise classification of this entity. A uniform interdisciplinary classification is necessary to facilitate assessment of acute pancreatitis. An international symposium held in 1992, attended by experts in fields including surgery, radiology, and pathology, formulated a nomenclature to describe acute pancreatitis. We retrospectively studied 96 cases of acute pancreatitis to test the efficacy of this classification as regards severity of the disease process and its complications. The initial severity of the pancreatitis was assessed, complications and their treatment noted and the various imaging modalities and their indications reviewed. The most efficacious investigation was computed tomography with intravenous contrast injection. Good correlation with the newer classification was noted in assessing the severity of the illness and its complications, as well as aiding in interdisciplinary communication. Particular difficulty was noted differentiating infected necrosis, pancreatic abscess and infected psuedocysts. Our results correlate well with the current literature, with the exception of a higher relative incidence of pancreatitis among females. This probably reflects the lower incidence of alcoholism in Israel among men, with biliary lithiasis among females primary in the etiology of the disease.

Functional endoscopic sinus surgery of orbital subperiosteal abscess in children.

Subperiosteal abscess of the orbit (SPA) should be considered an important part of the group of orbital complications following acute sinusitis. This situation requires early surgical intervention to avoid visual loss or ophthalmoplegia. Six cases of children with SPA of the orbit treated successfully by Functional Endoscopic Sinus Surgery (FESS) are reviewed. The importance of ophthalmological examination, nasal endoscopy and CT scan is emphasized concerning the management protocol. The major advantage of FESS is the avoidance of external ethmoidectomy with the resultant scar. FESS is demonstrated as a safe and convenient procedure with excellent post operative recovery of the patients.

Familial microcephaly with severe neurological deficits: a description of five affected siblings.

Autosomal recessive microcephaly is usually characterized by normal developmental milestones and minor neurological deficits. In this report, we describe five siblings in one family with marked microcephaly, intractable seizures, quadriplegia and profound mental retardation. The recurrence risk of microcephaly when associated with devastating neurological deficits, as exemplified by this family, may be high and in such cases, the role of appropriate genetic counseling is of utmost importance.

Esophageal involvement in chronic granulomatous disease. Case report and review.

A 5-year-old girl with chronic granulomatous disease (CGD) and esophageal narrowing is described. To date, only two cases of esophageal involvement in CGD have been reported. We present a third, well-documented case and a brief review of the literature.

Duodenal diaphragmlike stricture induced by acetylsalicylic acid.

Many reports have mentioned the role of nonsteroidal antiinflammatory drugs in inducing diaphragm-like strictures in the small and large bowel. These lesions are mostly seen in patients with chronic use of nonsteroidal antiinflammatory drugs. We report the case of a 57-year-old man who developed a diaphragmlike stricture in the second part of the duodenum. The patient had been using a preparation containing acetylsalicylic acid during many years. Although a congenital origin of the diaphragm is not completely excluded, we postulate that this stricture probably occurred as a result of acetylsalicylic acid-induced ulcerations, followed by submucosal fibrosis.

Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.

Prone computed tomography metrizamide myelography: a technique for improved diagnosis of lumbar disc herniation.

Computed tomography metrizamide myelography of the lumbar spine in the prone position is advocated for better visualisation of the thecal sac-disc annulus interface. This method allows a more precise diagnosis of disc herniation. Therefore, it is suggested that this technique should routinely be performed prone. In cases where suspended respiration in the prone position is difficult, the same result may be achieved by patient movement before scanning in the supine position.

Widespread osteolytic lesions of the long bones in basal cell nevus syndrome.

Three members of a family, father, daughter, and son, with the basal cell nevus syndrome are presented. A very unusual manifestation of widespread cyst-like osteolytic lesions in all the tubular bones was observed in the father, together with osteoblastic spotty "osteopoikilotic" lesions in the skull and the mandible of the same patient. Cyst-like osteolytic lesions have been described previously in this syndrome, mainly in the phalanges. We believe that such lesions can occur in any bone.

Combined percutaneous diagnostic puncture and management of renal cysts.

Significant reduction in size was obtained in 12 of 14 renal cysts treated by the instillation of iophendylate. The advent of noninvasive methods has increased the number of renal cysts detected radiologically and has limited the indication for diagnostic puncturing to problematic cases only. However, if it is decided to perform diagnostic puncture of a renal cyst, the combined instillation of iophendylate into the cyst seems to be therapeutically rewarding.