Biomedical subjects

N Perlmutter

Publications and source records attributed to N Perlmutter.

At least 19 recordsLinked to original sources

PubMed2001

Histology of Kashin-Beck lesions.

There are few papers in existence describing the histopathology of Kashin-Beck disease. The few existing papers mention chondronecrosis within the epiphyseal primodium and metaphyseal cartilage. In the present study, two series of samples were available for histology: supernumerary fingers removed from young subjects and intra-articular bodies collected in more advanced cases of the disease. The prevailing characteristic of the samples is the absence of vascularisation within the proximal cartilage end plate of the phalanx associated with an alteration of the epiphyseal bone formation. These observations suggest that Kashin-Beck disease could develop from an alteration of the angiogenesis of the metaphyseal cartilage resulting in degeneration with consequent joint dysplasia, which may be associated with a decrease in growth of the diaphyseal bones.

Adolescent↗

PubMed2001

Kashin-Beck disease and iodine deficiency in Tibet.

We evaluated iodine and selenium status in 575 children between 5 and 15 years with Kashin-Beck disease from endemic and non-endemic areas. Of these 267 (46%) children had goiter. The proportion of subjects with goiter was higher in the villages with Kashin-Beck disease than in the control village. In the villages with Kashin-Beck disease, 105 (23%) of the subjects had a serum thyrotropin greater than 10 mU/l as compared with 3 (4%) in the control village. The percentages of low serum thyroxine values and low serum tri-iodothyronine were greater in the villages where Kashin-Beck disease was endemic than in the control village. The percentages of low urinary iodine concentration were significantly greater in the subjects with Kashin-Beck disease. The results suggest that in areas where severe selenium deficiency is endemic, iodine deficiency is a risk factor for Kashin-Beck disease.

Adolescent↗

PubMed1998

Kashin-Beck osteoarthropathy in rural Tibet in relation to selenium and iodine status.

BACKGROUND AND METHODS: Kashin-Beck disease is a degenerative osteoarticular disorder that is endemic to certain areas of Tibet, where selenium deficiency is also endemic. Because selenium is involved in thyroid hormone metabolism, we studied the relation among the serum selenium concentration, thyroid function, and Kashin-Beck disease in 575 subjects 5 to 15 years of age in 12 villages around Lhasa, Tibet, including 1 control village in which no subject had Kashin-Beck disease. Clinical, radiologic, and biochemical data were collected. RESULTS: Among the 575 subjects, 280 (49 percent) had Kashin-Beck disease, 267 (46 percent) had goiter, and 7 (1 percent) had cretinism. Of the 557 subjects in whom urinary iodine was measured, 66 percent had a urinary iodine concentration of less than 2 microg per deciliter (157 nmol per liter; normal, 5 to 25 microg per deciliter [394 to 1968 nmol per liter]). The mean urinary iodine concentration was lower in subjects with Kashin-Beck disease than in control subjects (1.2 vs. 1.8 microg per deciliter [94 vs. 142 nmol per liter], P<0.001) and hypothyroidism was more frequent (23 percent vs. 4 percent, P=0.01). Severe selenium deficiency was documented in all villages; 38 percent of subjects had serum concentrations of less than 5 ng per milliliter (64 nmol per liter; normal, 60 to 105 ng per milliliter [762 to 1334 nmol per liter]). When age and sex were controlled for in a multivariate analysis, low urinary iodine, high serum thyrotropin, and low serum thyroxine-binding globulin values were associated with an increased risk of Kashin-Beck disease, but a low serum selenium concentration was not. CONCLUSIONS: In areas where severe selenium deficiency is endemic, iodine deficiency is a risk factor for Kashin-Beck disease.

Adolescent↗

PubMed1997

Hemorrhage in the cavum septi pellucidi in a full-term neonate.

A case of hemorrhage in the cavum septi pellucidi presenting as macrocephaly secondary to hydrocephalus in a full-term neonate is described. This condition has only been reported previously in one premature infant. This unusual location of intracranial bleeding has been demonstrated by ultrasonography and MRI. We discuss the pathophysiology.

Cerebral Hemorrhage↗

PubMed1997

Association of a fetus in fetu and two teratomas: US and MRI.

We report a case of an abdominal mass in a newborn girl containing a fetus in fetu and two teratomas. Obstetrical sonography revealed the abnormality at 28 weeks of gestation. Post-natal US examination suggested the diagnosis of a fetus in fetu upon the finding of a vertebral column and fetal skeletal bones. US also showed two other rounded masses connected to the main lesion by vascular bundles. Preoperative MRI examination supplied further information regarding tissue composition and vascularisation of the mass lesion. The diagnosis was confirmed by pathological examination. Aetiological factors and radiological diagnosis of this rare tumour are reviewed and discussed.

Abdominal Neoplasms↗

PubMed1997

Maternal diabetes and fetal malformations: a case associating cardiovascular, facial and skeletal malformations.

Maternal diabetes is known to be a condition associated with a high frequency of fetal malformations. However, pathogenic factors for these malformations and their possible classification into different entities are not yet well established. We present the case of an infant born to a diabetic mother and affected by several malformations. This report consolidates different hypotheses put forward in recent years.

Abnormalities, Multiple↗

PubMed1997

New syndrome or severe expression of Gordon syndrome? A case report.

A boy with multiple congenital anomalies including median cleft palate, bilateral hearing loss, clino- and camptodactyly, bilateral single palmar flexion creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, failure to thrive, bilateral cryptorchidism and facial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a small nose with anteverted nostrils, low-set ears, a prominent forehead, microretrognathia) is presented. His mother has a median cleft palate, bilateral hearing loss, single palmar flexion creases, and short stature. An autosomal or X-linked dominant syndrome with more severe expression in the proband than in his mother is suggested.

Abnormalities, Multiple↗

PubMed1996

Clinical evaluation of gadodiamide injection in paediatric MR imaging.

The safety and efficacy of intravenous gadodiamide injection, 0.1 mmol/kg body weight, have been evaluated in an open label, non-comparative as to drug, phase III clinical trial in 50 children from 6 months to 13 years of age, referred for MRI requiring the injection of a contrast medium. The central nervous system and other body areas were examined with T1 sequences before and after intravenous injection of the contrast medium. Overall safety was very good and no clinically relevant changes were evident as regards heart rate and venous blood oxygen saturation after injection. No adverse event or discomfort was experienced by conscious patients that could with certainty be related to the contrast medium, but slight movements were observed in two sedated patients that could be related to the injection. Comparing pre- and post-injection images, additional diagnostic information could be obtained from the latter in 41 patients (82%). In these images, the number of lesions detected increased and they were generally better delineated and their size more easily estimated. The results of this trial indicate that gadodiamide injection is safe and effective for MRI examinations in children.

Adolescent↗

PubMed1995

Increased renal parenchymal echogenicity in ifosfamide-induced renal Fanconi syndrome.

Three children who presented with a Fanconi syndrome induced by the chemotherapeutic drug ifosfamide were found to have renal abnormalities on sonogram examinations. Renal echographic changes consisted in hyperechogenicity of the parenchyma with good corticomedullar differentiation. After discontinuation of the chemotherapy, the serum and urine metabolic abnormalities due to proximal tubulopathy were completely or greatly improved. Imaging studies at that time showed a complete resolution of the renal hyperechogenicity. We suggest that in patients exposed to ifosfamide, renal sonogram may be of value to monitor the tubular toxicity of this drug. In these patients, urine and serum monitoring as well as prospective echographic follow-up kidney abnormalities may lead to earlier detection of ifosfamide-induced Fanconi syndrome as well as earlier detection of disease reversibility.

Child↗

PubMed1995

Gastric outlet obstruction: unusual ultrasonographic findings in the pyloric and antral regions.

The authors present the cases of four infants aged 2-4 months with symptoms suggesting gastric outlet obstruction. All four had US evaluation of the antropyloric region and upper GI series. Three of them underwent endoscopic investigations and three, surgery. US demonstrated hypertrophied pyloric muscle and, above all, antropyloric abnormalities in all cases, namely a solid mass within the pyloric canal, hypertrophy of the pyloric mucosa in two cases and a double juxtapyloric cyst with an ulcer. Differential diagnosis of the sonographic images is discussed in each case.

Diagnosis, Differential↗

PubMed1994

Bilateral congenital absence of the internal carotid artery with a primitive transmaxillary arterial anastomosis.

We report a case of congenital, bilateral absence of the internal carotid artery accompanied by a complex anastomotic plexus arising from the right maxillary artery, a terminal branch of the external carotid artery. We present the clinical features and the radiological diagnostic evidence which consisted of ultrasonography, brain CT and MRI, conventional angiography and skull base CT scan. We review the literature pertaining to this congenital anomaly and correlate embryology of the carotid arteries to this unusual type of collateral circulation.

Adolescent↗

PubMed1994

Early MR detection of cortical and subcortical hypoxic-ischemic encephalopathy in full-term-infants.

Four observations illustrate the potential of MR imaging in the early depiction of multiple types of neuropathologic lesions which may coexist in the full-term newborn, upon severe hypoxic-ischemic encephalopathy (HIE). In particular, diffuse, postnatal involvement of cerebral cortex and subcortical white matter (WM) is demonstrated. Cortical hyperintensity on both proton-density- and T1-weighted images is probably related to cellular necrosis which is distributed diffusely or parasagittally. Hyperintense, frontal, subcortical WM edging on proton-density-weighted images results from the increase of water concentration, induced either by infarct or by edema. Diffuse WM areas of low intensity on T1-weighted images and of high intensity on T2-weighted images are presumably related to cytotoxic and/or vasogenic edema, proportional to the underlying damaged tissues. On follow-up MR examinations, several months later, the importance of cortical atrophy and of the myelination delay appeared related to the importance of the lesions detected during the postnatal period.

Brain Ischemia↗

PubMed1994

Ureteral quadruplication: the fourth case report.

Among development abnormalities of the upper urinary tract, ureteral duplication is a very common finding while triplication is quite rare. Ureteral quadruplication is exceedingly unusual; to our knowledge only three cases have been reported over the past 25 years and all of them concerned adult patients. We present a case of unilateral quadruplicated ureters in a 9-month-old infant. Review of the literature failed to reveal documentation of such a case.

Humans↗

PubMed1994

Idiopathic infantile arterial calcification: a surviving patient with renal artery stenosis.

Idiopathic infantile arterial calcification (IIAC) is a rare hereditary, fatal disease. Death occurs usually within the first 28 months of life. IIAC is characterized by calcifications along the internal elastic membrane and proliferation of the intimal layer of muscular arteries. Specific therapy consists of administration of diphosphonates, but its effectiveness has been a matter of controversy. We report a case treated with diphosphonates which has had an unusual outcome.

Arteries↗

PubMed1993

The Keutel syndrome. Report of a case and review of the literature.

A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.

Abnormalities, Multiple↗

PubMed1993

MRI in seven cases of Rathke's cleft cyst in infants and children.

Seven MRI observations of presumed Rathke's cleft cysts in infants and children are reported. Age ranged between 6 months and 13 years. Size of the cysts ranged between 4 and 20 mm. While 3 small cysts were detected incidentally, 4 were large enough to cause symptoms secondary to compression of the pituitary gland and suprasellar components. The MRI appearance of the Rathke's cleft cysts varied according to their nature. MRI provides a major contribution to the diagnosis of these lesions; nevertheless, it often remains difficult to differentiate complex Rathke's cleft cysts from cystic craniopharyngiomas. The difficulties related to this differentiation are discussed.

Adolescent↗

PubMed1993

MRI evaluation and follow-up of bone necrosis after meningococcal infection and disseminated intravascular coagulation.

Disseminated intravascular coagulation (DIC) is a serious complication of meningococcal septicaemia. It often results in infarction of various tissues namely the skin, adrenal glands, kidneys, brain and, much less commonly, bones. We describe a patient who presented bone lesions after meningococcal septicaemia. In addition to plain radiography and scintigraphy the lesions were evaluated with MRI and have proved to be extensive and still progressive, approximately 18 months after the onset of the disease.

Bacteremia↗

PubMed1993

[Granulocytic sarcoma with mediastinal involvement].

BACKGROUND: Granulocytic sarcoma is more frequent in adults; it can be a tumoral localization of acute non-lymphoblastic leukemia. This report describes an infantile case revealing an acute myeloid leukemia. CASE REPORT: A 14 month-old girl was admitted because of enlarged bilateral cervical lymph nodes. They had increased in volume over the past month and were accompanied by fever and anorexia. The liver and spleen were moderately enlarged. Hematologic data were: Hb = 7.5 g%; leucocytes = 14,900/mm3; platelets = 614,000/mm3. There were no abnormal cells. X-rays and MRI showed a mediastinal mass. Bone scintigraphy was normal but the myelogram showed a few atypical cells that were also seen in a biopsy of the cervical lymph node. Electron microscopic examination of these cells showed that they were myeloid in origin. This was confirmed by immunohistochemistry. The cytogenetic examination showed many chromosomal abnormalities in the lymph node and myelogram. The child is now recovered after nine months of chemotherapy. CONCLUSION: Diagnosis of acute myeloblastic leukemia in children is difficult when it is revealed by granulocytic sarcoma without major infiltration of bone marrow. The clinical presentation as a mediastinal mass is rare. The cytogenetic study was determinant for diagnosis.

Bone Marrow↗