T. Haufe (Radiologie im Städtischen KH Dresden-Neustadt)  

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0 Years  

Female  

Generalized diseases  

congenital  

Mature hypotrophic newborn with very soft, elongated calvarium (Caput papyraceum), atypical horizontally oriented skinfolds along the upper and lower extremities.
Decreased concentration of the serum alkaline phosphatase.
Intubation and ventilation necessary due to increasing respiratory insufficiency. Exitus letalis at the day 15 due to respiratory insufficiency.  

Decreased activity of the isoenzymes of alkaline phosphatase produced in the liver, cartilage and bone.
Therefore mineralization disturbance of the osteoid with misrelation between mineralized and unmineralized osteoid.  

<- view X-Ray 1

X-Ray 1: Head ap: peel-like skull bones; due to decreased mineralization of the osteoid, very wide distance between the less radiolucent parts of the skull.





<- view X-Ray 2

X-Ray 2: Arm right ap: shortened long bones; cup-like and frailed metaphyses





<- view X-Ray 3

X-Ray 3: Pelvis with legs ap: shortened long bones; cup-like and frailed metaphyses; slender, poorly mineralized pelvic bones





<- view X-Ray 4

X-Ray 4: Thorax ap: frail thoracic skeleton with loss of volume; narrow, partially shortened ribs; Platyspondyly with wide distances of the vertebral arches



 

Genetics  

Rickets, Asphyxing thoracic dysplasia (Jeune-Syndrome), Tanatophore Dysplasia
 

genetic confirmation of the diagnosis by detection of two mutations of the ALPL gene.
Autosomal recessive inheritance,
4 forms: neonatal, infant, childhood, adult.
Frequency of the letal perinatal form 1:1000 000, so far only symptomatic therapy.  

Thank you very much for Prof.em.Dr.med.E.Rupprecht (Dresden/Germany)  

First described by Rathbun 1948  

1. Medline:
Kuhn/Slovis/Haller
Caffey`s Pediatric Diagnostic Imaging
Volume 2
Mosby 2004

2. Medline:
G.Benz-Bohm
Kinderradiologie
Thieme 2005

3. Medline:
Schinz
Radiologische Diagnostik im Klinik und Praxis
Band! VI Teil 1
Thieme 1989

4. Medline:
Schuster/Färber
Kinderradiologie 1
Springer 1996  

lethal perinatal form, hypophosphatasia, alkaline phosphatase, mineralization defect, mineralizationdefect, defect, mineralization, bones, horizontally oriented skinfolds, leg, arm, head, skull, Rathbun, calvarium, Caput papyraceum, mutation, ALPL gene, shortend bones, fringed metaphyses, fringed metaphysis, child, childhood, pediatric radiology  

T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
URL: www.PedRad.info/?search=20050802100900