Minor dysmorphic features in a patient with papillorenal syndrome – A Case Report

Journal of the Pakistan Medical Association ◽

10.47391/jpma.1158 ◽

2020 ◽

pp. 1-7

Author(s):

Ferit Kulali ◽

Ahmet Yagmur Bas ◽

Fatma Iyigun Guzel ◽

Husniye Yucel ◽

Caner Kara ◽

...

Keyword(s):

Critical Role ◽

Multicystic Dysplastic Kidney ◽

Renal Abnormality ◽

Related Disorder ◽

Dysmorphic Features ◽

First Case ◽

Dysplastic Kidney ◽

Renal Coloboma Syndrome ◽

Papillorenal Syndrome ◽

Pax2 Gene

Abstract Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormality. The syndrome causes mutations in the PAX2 gene, which plays a critical role in embryogenesis. Other related anomalies are less commonly observed. To our knowledge, ours is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features. Keywords: Renal coloboma syndrome; PAX2-related disorder; coloboma of optic nerve, multicystic dysplastic kidney; eye abnormalities Continuous...

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Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20194764 ◽

2019 ◽

Vol 6 (6) ◽

pp. 2726

Author(s):

Garima Goyal ◽

Ajay Arya

Keyword(s):

Congenital Anomalies ◽

Joubert Syndrome ◽

Magnetic Resonance Images ◽

Molar Tooth ◽

Multicystic Dysplastic Kidney ◽

Facial Dysmorphism ◽

Multiple Congenital Anomalies ◽

Related Disorder ◽

Molar Tooth Sign ◽

Dysplastic Kidney

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

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Cross ectopic multicystic dysplastic kidney with ureterocele in nonectopic site

Canadian Urological Association Journal ◽

10.5489/cuaj.858 ◽

2013 ◽

Vol 4 (3) ◽

pp. 61 ◽

Cited By ~ 1

Author(s):

Adnan Narcı ◽

Mevlit Korkmaz ◽

Muhittin Karakus ◽

Tolga Altug Sen ◽

Îlhamı Surer ◽

...

Keyword(s):

Surgical Intervention ◽

Horseshoe Kidney ◽

Multicystic Dysplastic Kidney ◽

Ectopic Ureter ◽

Normal Kidney ◽

First Case ◽

Dysplastic Kidney

Crossed renal ectopy (CRE) is the second most common fusionanomaly of the kidney, with an incidence of 1 in 7000 autopsies;it comes in second after horseshoe kidney. Crossed renal ectopy isassociated with an ectopic ureter and generally an ectopic kidneyfused with a normal kidney. A 7-month-old boy who had left-torightcrossed non-fused renal ectopy and multicystic renal dysplasiawith ureterocele in nonectopic kidney was reported in Englishlanguage literature. In this article, we present the first case of CREwhere surgical intervention has been performed.

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Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709620957777 ◽

2020 ◽

Vol 8 ◽

pp. 232470962095777 ◽

Cited By ~ 1

Author(s):

Maria Elena Romero-Ibarguengoitia ◽

Consuelo Cantú-Reyna ◽

Dalia Gutierrez-González ◽

Héctor Cruz-Camino ◽

Arnulfo González-Cantú ◽

...

Keyword(s):

Intellectual Disability ◽

Genetic Variants ◽

Therapeutic Approaches ◽

Multisystem Disorder ◽

Related Disorder ◽

Dysmorphic Features ◽

The Third ◽

The Central Nervous System ◽

Mexican Patient

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.

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Cytogenomic aberrations in isolated multicystic dysplastic kidney in children

Pediatric Research ◽

10.1038/s41390-021-01476-9 ◽

2021 ◽

Author(s):

Tian-Jian Chen ◽

Renfang Song ◽

Adam Janssen ◽

Ihor V. Yosypiv

Keyword(s):

Multicystic Dysplastic Kidney ◽

Dysplastic Kidney

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Laparoscopic transposition for crossing vessels (vascular hitch) in pure extrinsic pelvic-ureteric junction obstruction: a successful case report of a 2-year-old infant with horseshoe kidney

Surgical Case Reports ◽

10.1186/s40792-021-01190-y ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Satoshi Ieiri ◽

Kouji Nagata

Keyword(s):

Laparoscopic Surgery ◽

Left Kidney ◽

Horseshoe Kidney ◽

Renal Scintigraphy ◽

Multicystic Dysplastic Kidney ◽

Extrinsic Compression ◽

Dysplastic Kidney ◽

Renal Vessels ◽

The Right ◽

Crossing Vessels

Abstract Background Pediatric hydronephrosis induced by pelvic-ureteric junction obstruction (PUJO) is treated by dismembered pyeloplasty (DP) via open and laparoscopic surgery. The etiology of PUJO involves both intrinsic stenosis and extrinsic compression of crossing vessels (CVs). PUJO owing to CVs is also treated by DP, as there is no consensus concerning this vascular condition. We encountered a 2-year-old infant with pure extrinsic PUJO combined with horseshoe kidney who successfully underwent laparoscopic transposition for CVs (vascular hitch). Case presentation A 2-year-old boy was prenatally diagnosed with left multicystic dysplastic kidney (MDCK) and right hydronephrosis and received a definitive diagnosis after birth. At 6 months old, renal scintigraphy revealed a non-functioning pattern in the left kidney and an obstructive pattern in the right, showing no response to furosemide loading. The patient also had recurrent urinary tract infection, and his right hydronephrosis gradually worsened. We decided to perform surgery for the right PUJO. Preoperative enhanced computed tomography detected three right renal vessels independently branching from the abdominal aorta. The middle renal vessels were located at the ventral side of the pelvis and coincident with the site of PUJO. These vessels were suspected of being CVs. The patient underwent laparoscopic surgery electively. A 5-mm trocar was inserted at the umbilicus for a 5-mm, 30° rigid scope. Two additional ports were then inserted under laparoscope inspection. The dilated right pelvis and CVs were detected after ascending colon mobilization. To confirm the pathogenesis of PUJO, the CVs were dissected and taped. After taping the CVs, an intraoperative diuretic test was performed using furosemide loading. Peristalsis of the right ureter was recognized, and the extrinsic PUJO owing to the CVs was definitively confirmed. We therefore performed transposition for the CVs (vascular hitch procedure). The CVs were mobilized in the cranial direction and those were wrapped by dilated pelvis. The post-operative course was uneventful. The renal scintigraphy findings improved and showed a favorable response of furosemide loading. Conclusions The laparoscopic vascular hitch procedure is minimally invasive and effective for extrinsic PUJO due to CVs. Anastomotic stricture after Anderson and Hynes DP can be prevented by appropriate patient selection.

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Costa Rica in 1948: Cold War or Local War?

The Americas A Quarterly Review of Latin American History ◽

10.2307/1008474 ◽

1996 ◽

Vol 52 (4) ◽

pp. 465-493 ◽

Cited By ~ 1

Author(s):

Marcia Olander

Keyword(s):

Latin America ◽

Cold War ◽

Costa Rica ◽

Critical Role ◽

Costa Rican ◽

Panama Canal Zone ◽

First Case ◽

The Government ◽

The Cold War ◽

The U.S

The years following World War Two produced a strong resurgence of U.S. intervention in Central America and the Caribbean couched in Cold War terms. Although the U.S. intervention in Guatemala to overthrow the government of Jacobo Arbenz in 1954 has generally been seen as the first case of Cold War covert anti-Communist intervention in Latin America, several scholars have raised questions about U.S. involvement in a 1948 Costa Rican civil war in which Communism played a critical role. In a 1993 article in The Americas, Kyle Longley argued that “the U.S. response to the Costa Rican Revolution of 1948, not the Guatemalan affair, marked the origins of the Cold War in Latin America.” The U.S. “actively interfered,” and achieved “comparable results in Costa Rica as in Guatemala: the removal of a perceived Communist threat.” Other authors have argued, even, that the U.S. had prepared an invasion force in the Panama Canal Zone to pacify the country. The fifty years of Cold War anti-Communism entitles one to be skeptical of U.S. non-intervention in a Central American conflict involving Communism. Costa Ricans, aware of a long tradition of U.S. intervention in the region, also assumed that the U.S. would intervene. Most, if not all, were expecting intervention and one key government figure described U.S. pressure as like “the air, which is felt, even if it cannot be seen.” Yet, historians must do more than just “feel” intervention. Subsequent Cold War intervention may make it difficult to appraise the 1948 events in Costa Rica objectively. Statements like Longley's that “it is hard to believe that in early 1948 … Washington would not favor policies that ensured the removal of the [Communist Party] Vanguard,” although logical, do not coincide with the facts of the U.S. role in the conflict.

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