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CASE REPORT
reduced dermis thickness with absence of dermal elastic
usually nearly absent and subcutaneous fat is slightly increased.
Clinical manifestations described in literature include tight, thin, shiny, translucent skin with prominent vessels, exfoliated ichthyosis like desquamation, facial changes, including small, round, open mouth, sparse or absent eyelashes and eyebrows, mineralization of the skull, enlarged fontanels, low-set ears, small, pinched noses, generalized joint contractures, dysplasia of clavicles, and pulmonic atelectasis leading to respiratory 2,3 Infants with RD usually die soon after birth or within a few weeks after birth.2,3
Radiographic features that have been described include poorly mineralized skeleton, enlarged fontanels, hypoplastic or dysplastic mandible, thin dysplastic clavicles, long bone defects, abnormalities of the scapula, gracile, ribbon-like, slender ribs and pulmonary hypoplasia.3 One case report demonstrated cerebral edema and subependymal hemorrhage on ultrasound.3
the brain parenchyma or vasculature. This is in contrast to
the pineal gland and choroid plexus.4 ICC occurring before
the age of 20 years are considered pathological.4 ICC have characteristic appearances and patterns that provide a clue to a
extensive spectrum of underlying disorders including some
of the so-called TORCH infections, genetic and inherited disorders, and vascular related disease. Toxoplasmosis and Cytomegalovirus (CMV) are among the most frequent TORCH infections to result in ICC.5 Genetic and inherited disorders resulting in ICC include Acardi-Goutieres Syndrome, band other rarer causes.4 Vascular disorders resulting in ICC include venous sinus thrombosis, hemorrhage, and anoxia.6 Adrenal disorders, however in the pediatric population neuroblastoma, adrenal hemorrhage, and Wolman’s Disease are part of the differential.7
The patient presented in this case had small intracranial
have been previously reported that have described intracranial
TORCH infections. Also, it did not appear near the germinal classic pattern of other diseases described above either. Bilateral
this case sonographically did not match such a diagnoses. We
spectrum or a result of one or two separate insults in utero from secondary causes related to RD.
■ OMAR CHOHAN, DO is Diagnostic Radiology Resident at Christiana Care Health System in Newark, Del.
■ REZA J. DAUGHERTY, MD is a Radiologist at Christiana Care Health System in Newark, Del.
■ LOUIS BARTOSHESKY, MD, MPH is a Pediatric Clinical Geneticist at Christiana Care Health System in Newark and Medical Director of Genetics and Newborn Screening for the Delaware Division of Public Health.
REFERENCES
1. Bosque E. Complex case study: nursing care of an infant with
restrictive dermopathy. J Perinat Neonatal Nurs. 2009;23:171–177.
2. Ahmad Z, Phadke SR, Arch E, Glass J, Agarwal AK, Garg A. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity. Clinical Genetics. 2012;81:158- 164.
3. Morais P, Magina S, Ribeiro MDC, et al. Restrictive dermopathy – a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr. 2008;168:1007-1012.
4. Livingston JH, Stivaros S, Warren D, Crow YJ. Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. Dev Med Child Neurol. 2013;56:612-626.
5. Parmar H, Ibrahim M. Pediatric intracranial infections. Neuroimag Clin North Am. 2012;22:707-725.
6. Grant EG, Williams AL, Schellinger D, Slovis TL. Intracranial calcification in the infant and neonate: evaluation by sonography and CT. Radiology. 1985;157:63-68.
7. Hindman N, Israel GM. Adrenal gland and adrenal mass calcification. Eur Radiol. 2004;15:1163-1167.
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