Warburg syndrome: Lethal neurodysplasia with autosomal recessive inheritance

Whitley, Chester B.; Thompson, Theodore R.; Mastri, Angeline R.; Gorlin, Robert J.

doi:10.1016/s0022-3476(83)80182-6

Cited by 41 publications

(23 citation statements)

References 16 publications

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“…Although rare, over 60 cases affecting all races have been reported in the English literature [1]. Whereas genital anomalies (undescended testis, micropenis) are common in males [1], only two reports mention histology of the testis [3,4]. In the three WWS cases we studied, we found distinctive morphologic findings in the testes that may be highly diagnostic because they were absent in 180 age-matched controls, including a majority that had a variety of central nervous system abnormalities.…”

Section: Introductionmentioning

confidence: 65%

“…Because the three WWS cases presented here and reported cases [1,3,4] lacked any Mullerian structure and had all the Wolffianderived organs, testicular function may be presumed to be normal until at least 15 weeks gestation in this condition. In this conclusion, we echo that of Weinberg, who provided the first detailed report of abnormal testicular morphology in WWS; autopsy on a 10-month-old male showed streak gonads containing ovarian follicle-like structures [4].…”

Section: Testicular and Pituitary Function In Walker-warburg Syndromementioning

confidence: 76%

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Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

et al. 1998

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Two male fetuses (18 and 22 weeks gestation) and a 3-month-old male infant (full sibling of the younger fetus) who were diagnosed with Walker-Warburg syndrome (WWS) on the basis of neuropathologic autopsy findings in brain, eyes, and muscle also had micro-orchia and, microscopically, diffuse gonadoblastoid dysplasia in the testes. Both fetuses also had a miniature left ureter and cystic dysplastic left kidney. Testes from control fetuses of 17-24 weeks gestation with normal karyotype and no central nervous system abnormalities (group A, n = 50), a variety of central nervous system abnormalities (group B, n = 50), or an autosomal aneuploidy syndrome with or without central nervous system abnormalities (group C, n = 30) had no diffuse dysplasia, although a single gonadoblastoid seminiferous tubular profile was present in three controls. Testicular morphology was normal in older fetuses and infants with a wide variety of central nervous system malformations (group D, n = 50). We found no evidence of hypogonadotrophic hypogonadism in the three WWS cases to account for the small penis and incompletely descended testes commonly reported in this condition. We concluded that the apparent specificity of the gonadoblastoid testicular dysplasia to WWS suggests that the gene defect directly affects testicular development.

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Section: Introductionmentioning

confidence: 65%

Section: Testicular and Pituitary Function In Walker-warburg Syndromementioning

confidence: 76%

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

et al. 1998

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“…In the remaining case [7] the diagnosis of WWS was not addressed. On the other hand, Whitley and colleagues [13] reported a patient with WWS in which testicular abnormalities included small size, attributed to shortening of the seminiferous tubules, and low numbers of Leydig cells. No features resembling FGTD were present.…”

Section: Discussionmentioning

confidence: 99%

“…A pattern of autosomal recessive inheritance is proposed [12][13][14]. Patients are bom profoundly hypotonic and blind.…”

Section: Discussionmentioning

confidence: 99%

Fetal Gonadoblastoid Testicular Dysplasia: A Focal Failure of Testicular Development

et al. 2007

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Fetal gonadoblastoid testicular dysplasia (FGTD) is an extremely rare lesion, which, in its original description, appeared in association with hydrops fetalis and other malformations. Its phenotype strongly resembles gonadoblastoma, although in contrast with that rare tumor, FGTD is not associated with the intersexual states or gonadal dysgenesis that accompany such neoplasm. Two reports described an association of FGTD and a morphologically similar lesion with Walker-Warburg syndrome. However, we have not confirmed such an observation, although a nonspecific muscle disorder was found in one of the examples we describe in this article. Here we study 2 additional cases, providing a detailed topographical, histomorphological, and immunophenotypical analysis. A review of all 5 previously described cases is conducted. The features of this lesion support the notion that a focal defect in testicular development is its most likely pathogenesis.

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“…With severe hydrocephalus, the only other anomaly that can always be discerned is increased radiodensity in the region of the anterior interhemispheric fissure [ Fig. 1 in Whitley et al, 1983; Fig. 1 in AymC and Mattei, 19831 (Fig.…”

Section: Radiologymentioning

confidence: 99%

Syndromes with lissencephaly. II: Walker‐Warburg and Cerebro‐Oculo‐Muscular syndromes and a new syndrome with type II lissencephaly

et al. 1985

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Lissencephaly (smooth brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least two distinct pathological types occur, each associated with several recognized syndromes. In this paper, we report on the clinical and pathologic manifestations of four additional patients and classify and delineate three separate disorders with type II lissencephaly. We also report on a previously undescribed abnormality in one of the four patients--dilated rough endoplasmic reticulum cisternae containing an unknown osmiophilic secretory product, probably a glycoprotein.

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Warburg syndrome: Lethal neurodysplasia with autosomal recessive inheritance

Cited by 41 publications

References 16 publications

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

Gonadoblastoid Testicular Dysplasia in Walker-Warburg Syndrome

Fetal Gonadoblastoid Testicular Dysplasia: A Focal Failure of Testicular Development

Syndromes with lissencephaly. II: Walker‐Warburg and Cerebro‐Oculo‐Muscular syndromes and a new syndrome with type II lissencephaly

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