Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives

Perinatal hypophosphatasia (HPP) is a rare, potentially life-threatening, inherited, systemic metabolic bone disease that can be difficult to recognize in utero and postnatally. Diagnosis is challenging because of the large number of skeletal dysplasias with overlapping clinical features. This review focuses on the role of fetal and neonatal imaging modalities in the differential diagnosis of perinatal HPP from other skeletal dysplasias (e.g., osteogenesis imperfecta, campomelic dysplasia, achondrogenesis subtypes, hypochondrogenesis, cleidocranial dysplasia). Perinatal HPP is associated with a broad spectrum of imaging findings that are characteristic of but do not occur in all cases of HPP and are not unique to HPP, such as shortening, bowing and angulation of the long bones, and slender, poorly ossified ribs and metaphyseal lucencies. Conversely, absent ossification of whole bones is characteristic of severe lethal HPP and is associated with very few other conditions. Certain features may help distinguish HPP from other skeletal dysplasias, such as sites of angulation of long bones, patterns of hypomineralization, and metaphyseal characteristics. In utero recognition of HPP allows for the assembly and preparation of a multidisciplinary care team before delivery and provides additional time to devise treatment strategies

Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment

Myelomeningocele (MMC) is a protrusion of spinal cord contents and meninges through a vertebral defect. Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice. In our case, a 3-month-old female was born with a lumbosacral cyst, the size of which had been increasing gradually over age. There was no neurological, orthopedic, or urologic dysfunction. On the day of her death, she received a repetitive and rapid lumbosacral cyst puncture drainage procedure, performed by an illegal medical practitioner. Postmortem autopsy findings confirmed a diagnosis of MMC and the cause of death to be cerebellar tonsillar herniation. This is a pathetic case of preventable infant death. This report suggests that the possibility of MMC should be considered in infants born with a lumbosacral cyst, and aspiration is inadvisable. Besides, forensic autopsy has a valuable role in determining the exact cause of death, identifying, or excluding iatrogenic factors that may be relevant to death following a medical procedure. A final point is that prevention programs should be developed, especially by the health care sectors to reduce such tragedy