Neonatal hemochromatosis

Blisard, Karen S.; Bartow, Sue A.

doi:10.1016/s0046-8177(86)80461-0

Cited by 54 publications

(17 citation statements)

References 24 publications

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“…The bleeding problems of case one probably had other causes, but may have been related. The iron deposition in case 4 showed findings inconsistent with neonatal hematochromatosis [Blisard and Bartow 1986;Knisely et al, 19871, but extrahepatic parenchymal siderosis is well recognized in chronic alies. Lack of centromeric puffing goes against Roberts syndrome, which may overlap phenotypically with TAR [Anyane-Yeboa et al, 19851.…”

Section: Discussionmentioning

confidence: 91%

von Voss‐Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies

et al. 1994

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We report 4 cases and review 7 from the literature with a pattern suggesting a variable early lethal multiple congenital anomaly syndrome. This was first reported by von Voss et al. [1979: "Klinische Genetik in der Pädiatrie," pp 70-74] and Cherstvoy et al. [1980: Lancet ii:485], and can affect upper limbs, face, brain, heart, lungs, urogenital and gastrointestinal systems, vertebrae and ribs, and can include thrombocytopenia. The initial cases had occipital encephaloceles and phocomelia, but milder cerebellar anomalies and radial ray defects may be seen instead. Both sexes are affected and parental age is not increased. This may be heterogeneous, but two consanguineous families, one with recurrences, suggest autosomal recessive inheritance in at least some instances, although the recurrences had milder brain findings than the other cases. The original designation of DK-phocomelia syndrome is inaccurate, since arm findings may be limited to radial anomalies; we suggest instead the von Voss-Cherstvoy syndrome. This may be heterogeneous, but at present, phenotypic overlap prevents differentiation of subgroups. The disorder appears to be part of a group of syndromes with radial and hematologic abnormalities.

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Section: Discussionmentioning

confidence: 91%

von Voss‐Cherstvoy syndrome: A variable perinatally lethal syndrome of multiple congenital anomalies

et al. 1994

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“…These conditions have to be ruled out by a questionnaire on the patient's medical history. Microscopical examination may disclose an angiomatosis of the liver or intrahepatic erythropoiesis, it may also confirm neonatal idiopathic hemochromatosis [24]. Hereditary autosomal recessive haemochromatosis differs from the neonatal form and usually occurs in adults.…”

Section: Discussionmentioning

confidence: 98%

Histological demonstration of haemosiderin deposits in lungs and liver from victims of chronic physical child abuse

Dorandeu

Périé

Jouan

et al. 1999

International Journal of Legal Medicine

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In the context of chronic physical child abuse, two entities have been described based on macroscopical and radiological criteria: the battered baby syndrome and the shaken baby syndrome. However, in some autopsy cases, clinico-radiological information may not be available. In these cases, histological examinations are necessary to look for sequelae of repeated haemorrhages, particularly in organs likely to have suffered traumatisms such as the lungs, or in organs belonging to the mononucleated macrophage resorption system, such as the liver and the spleen. We examined a series of 15 young children who died from proven chronic child abuse and compared them with 15 sex and age-matched control subjects who died from natural causes with no history of child abuse. Using Perl's stain for iron, we identified haemosiderin deposits in pulmonary, hepatic and splenic samples and the deposits were evaluated qualitatively and quantitatively. Haemosiderin deposits were significantly (P < 0.001) more abundant in the lungs and liver of the chronic abuse victims than in those of the control subjects. However, they were not significantly more abundant in the spleens of child abuse victims than in controls. We conclude that haemosiderin deposits in lungs and liver could be proposed as a marker for chronic physical child abuse. This study stresses the importance of systematic histological examination to look for pulmonary and hepatic haemosiderin deposits in cases in which chronic child abuse is suspected.

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“…Massive iron storage is found in hepatocytes, which leads to hepatic fibrosis [8,10,18,19], A lesser amount can be detected in endocrine organs (thyroid, adrenals, pancreas and pitu itary gland), the heart and renal tubules, whereas the reticuloendothelial and central nervous systems are not affected [1,2,5,11,12,16].…”

Section: Discussionmentioning

confidence: 99%