Pierson Syndrome Associated with Hypothyroidism and Septic Shock.
Sultan Qaboos Univ Med J
; 20(4): e385-e389, 2020 Nov.
Article
en En
| MEDLINE
| ID: mdl-33414946
ABSTRACT
Pierson syndrome is caused by mutations in the laminin ß2 gene causing absent ß2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation. We report a two-month old boy who presented to the Pediatrics Department of Dr. Ruth K. M. Pfau Civil Hospital, Karachi, Pakistan, in 2015, with the typical features of microcoria and congenital nephrotic syndrome. The hypocalcaemia, hypoproteinaemia and probable immunocompromised state consequent to nephrotic syndrome resulted in seizures, hypothyroidism and urosepsis. Despite being treated aggressively with high dose antibiotics, ionotropic support, angiotensin-converting enzyme inhibitors, thyroxine replacement and nutritional support, the infant died due to significant multiorgan disease including renal failure and septic shock.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Choque Séptico
/
Trastornos de la Pupila
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Hipotiroidismo
/
Síndrome Nefrótico
Tipo de estudio:
Risk_factors_studies
Límite:
Child
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Humans
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Infant
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Male
Idioma:
En
Revista:
Sultan Qaboos Univ Med J
Año:
2020
Tipo del documento:
Article
País de afiliación:
Pakistán