Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant

Wenzl, James E.; Lagos, Jorge C.; Albers, Donald D.

doi:10.1016/s0022-3476(70)80211-6

Cited by 36 publications

(8 citation statements)

References 7 publications

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“…Apart from the above-mentioned associations, cystic kidneys have often been shown to be part of a defined syn drome or hereditary disorder such as thoracic dystrophy [10], tuberous sclerosis [24] and some others [15], In our present investigation, however, we could not find any of the more typical syndromes, apart from those already men tioned, and this was possibly due to the retrospective nature of the study. The present material included 22 cases (16%) with a known inherited cystic kidney disease (15 IPCD, 1 APCD, 3 Meckel's syndrome and 3 juvenile nephronophthisis).…”

Section: Discussioncontrasting

confidence: 70%

Renal Cysts in Pediatric Autopsy Material

Mır¹,

Rapola²,

Koskimies³

1983

Nephron

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In a series of 6,521 consecutive autopsies of infants and children, renal cysts were found in 136 cases (2%). Of these, 71 were females and 65 males; 103 patients had died in their first month of life. The different types of cystic disease represented were as follows: renal cystic dysplasia 65, cortical cysts in syndromes of multiple malformations 42, polycystic disease 16, simple cortical cysts 7, renal cysts in hereditary syndromes 3, and renal medullary cystic disorders 3. Extrarenal malformations were encountered in 102 of the 136 cases with renal cysts. Gastrointestinal malformations and in particular esophageal atresia very often appeared to be associated with renal disease. Esophageal atresia was found in 29 (21 %) cases, 20 in cases with renal cystic dysplasia and 9 in cases with cortical cysts in syndromes of multiple malformations. The possibility of renal cystic disease should therefore be kept in mind in infants with congenital malformation(s), especially those with esophageal atresia.

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Section: Discussioncontrasting

confidence: 70%

Renal Cysts in Pediatric Autopsy Material

Mır¹,

Rapola²,

Koskimies³

1983

Nephron

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“…The patient was misdiagnosed as having polycystic kidney disease. 2,4 Although a family history of polycystic kidney disease or tuberous sclerosis may be helpful in differentiating the nature of cysts, this valuable historical help may be lacking in more than one half of the patients. Table 1 summarizes the literature on cystic renal disease in tuberous sclerosis.…”

Section: Discussionmentioning

confidence: 99%

Cystic Renal Involvement in Tuberous Sclerosis

Sheth

1985

Clin Pediatr (Phila)

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We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.

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“…Autosomal recessive polycystic kidney disease (ARPKD) 267 sound examinations [26][27][28]. This condition can be differentiated from ARPKD if one or more of the other features of tuberous sclerosis are present: ash leaf depigmented spots confirmed by examination with ultraviolet light, evidence of tubers in the brain by CT scan examination, leiomyomas in the heart or kidney, or a similarly affected parent.…”

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confidence: 99%