Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion

1990 ◽  
Vol 149 (9) ◽  
pp. 618-620 ◽  
Author(s):  
A. Hamers ◽  
P. Jongbloet ◽  
G. Peeters ◽  
J. P. Fryns ◽  
J. Geraedts
Keyword(s):  
Mental Retardation ◽  
Type I ◽  
Syndrome Type ◽  
Severe Mental Retardation

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13

1989 ◽  
Vol 32 (1) ◽  
pp. 133-135 ◽  
Author(s):  
Yoshifumi Yamamoto ◽  
Noriko Oguro ◽  
Masutomo Miyao ◽  
Masayoshi Yanagisawa ◽  
John M. Opitz ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Type I ◽  
Syndrome Type ◽  
Severe Mental Retardation

Two Different UGT1A1 Mutations causing Crigler–Najjar Syndrome types I and II in an Iranian Family

2015 ◽  
Vol 24 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Mahdiyeh Behnam ◽  
Shinichi Ikushiro ◽  
Sayuri Nakahara ◽  
Narges Nouri ◽  
...  
Keyword(s):  
Serum Bilirubin ◽  
Total Serum Bilirubin ◽  
Total Serum ◽  
Compound Heterozygous ◽  
Type I ◽  
Syndrome Type ◽  
Type Ii ◽  
Wild Type ◽  
Iranian Family ◽  
Udp Glucuronosyltransferase

Background: Crigler–Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mutation in the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene that resulted in residual enzymatic activity.Case report: The female proband developed severe hyperbilirubinemia [total serum bilirubin concentration (TB) = 34.8 mg/dL] with bilirubin encephalopathy (kernicterus) and died after liver transplantation. Her family history included a cousin with kernicterus (TB = 30.0 mg/dL) diagnosed as CN-1. Her great grandfather (TB unknown) and uncle (TB = 23.0 mg/dL) developed jaundice, but without any treatment, they remained healthy as CN-2. Results: The affected cousin was homozygous for a novel frameshift mutation (c.381insGG, p.C127WfsX23). The affected uncle was compound heterozygous for p.C127WfsX23 and p.V225G linked with A(TA)7TAA. p.V225G-UGT1A1 reduced glucuronidation activity to 60% of wild-type. Thus, linkage of A(TA)7TAA and p.V225G might reduce UGT1A1 activity to 18%–36 % of the wild-type. Conclusion: Genetic and in vitro expression analyses are useful for accurate genetic counseling for a family with a history of both CN-1 and CN-2. Abbreviations: CN-1: Crigler–Najjar syndrome type I; CN-2: Crigler–Najjar syndrome type II; GS: Gilbert syndrome; UGT1A1: bilirubin UDP-glucuronosyltransferase; WT: Wild type; TB: total serum bilirubin.

A Familial Case of Trichorhinophalangeal Syndrome Type I

2009 ◽  
Vol 26 (2) ◽  
pp. 171-175 ◽  
Author(s):  
Mario Vaccaro ◽  
Fabrizio Guarneri ◽  
Olga Barbuzza ◽  
Michele Gaeta ◽  
Claudio Guarneri
Keyword(s):  
Familial Case ◽  
Type I ◽  
Syndrome Type ◽  
Trichorhinophalangeal Syndrome

scholarly journals Long-term follow-up of patients with Bartter syndrome type I and II

2010 ◽  
Vol 25 (9) ◽  
pp. 2976-2981 ◽  
Author(s):  
E. Puricelli ◽  
A. Bettinelli ◽  
N. Borsa ◽  
F. Sironi ◽  
C. Mattiello ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Long Term Follow Up

Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia

2007 ◽  
Vol 82 (3) ◽  
pp. 239-241
Author(s):  
Anna Lauda-Świeciak ◽  
Olga Haus ◽  
Danuta Kurylak ◽  
Ewa Duszeńko ◽  
Krystyna Soszyńska
Keyword(s):  
Mental Retardation ◽  
Partial Trisomy ◽  
Severe Mental Retardation

Effect of spinal cord stimulation in Type I complex regional pain syndrome with 2 rare severe cutaneous manifestations

2009 ◽  
Vol 110 (2) ◽  
pp. 274-278
Author(s):  
Kim Rijkers ◽  
Jasper van Aalst ◽  
Erkan Kurt ◽  
Marc A. Daemen ◽  
Emile A. M. Beuls ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Complex Regional Pain Syndrome ◽  
Female Patient ◽  
Spinal Cord Stimulation ◽  
Scientific Literature ◽  
Pain Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Cutaneous Manifestations ◽  
Giant Bullae

The authors present the case of a 49-year-old female patient with complex regional pain syndrome–Type I (CRPSI) who was suffering from nonhealing wounds and giant bullae, which dramatically improved after spinal cord stimulation (SCS). The scientific literature concerning severe cutaneous manifestations of CRPS-I and their treatment is reviewed. Nonhealing wounds and bullae are rare manifestations of CRPS-I that are extremely difficult to treat. Immediate improvement of both wounds and bullae after SCS, such as in this case, has not been reported previously in literature. Considering the rapidly progressive nature of these severe skin manifestations, immediate treatment, possibly with SCS, is mandatory.

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