Page 20 - Delaware Medical Journal - October 2016
P. 20
Restrictive Dermopathy: A Rare Disease with Unusual Radiographic Findings
Omar Chohan, DO; Reza J. Daugherty, MD; Louis Bartoshesky, MD, MPH
The patient is a unique case presenting with presumed Restrictive Dermopathy (RD) and intracranial and adrenal calcifications, an association not previously described
in the literature. This case postulates the possibility of additional radiographic features that can be included in the spectrum of RD or as secondary events from the underlying pathophysiology of RD.
IntroductionThe patient was a 1,280g female product of a
32-week and one day gestation, born by C-section due to breech presentation to a 24-year-old gravida 1, para 0 mother. The mother was blood group A negative, antibody negative, rubella immune, syphilis negative, hepatitis B surface antigen negative, HIV negative, Group B Streptococcus negative, gonorrhea
and chlamydia negative. The mother received routine prenatal care. There were no exposures to known teratogens except for during the course of routine screening. The pregnancy was complicated by gestational diabetes, chronic placental abruption, oligohydramnios, and suspected intrauterine growth restriction (IUGR). The mother had been taking Lexapro for anxiety and received prednisone during her 30th and 32nd week of gestation for fetal lung maturation. The baby received Apgar scores of 6 and
included a misshapen head with an occipital shelf, large anterior fontanelle and a soft skull. The patient’s orbits were shallow, unable to close and lacked eyelashes. The nose and nares were very small. The ears were unusually positioned with incomplete helices and uncertain canal openings. The baby’s mouth was unable to be closed and there were major contractures of the shoulders, elbows, hips, knees and feet. Pterygia were noted the left and right hand. The left foot was missing 3 digits and
the 5 phalanges were short on the right. The skin demonstrated an ichthyotic and denuded appearance. Extensive erythema, irritation and scaling of the skin was apparent over the entire body with areas of necrotic and dark red skin tissue were seen overlying the buttocks. The pulmonary, cardiac, and abdominal exam were normal.
Initial postnatal evaluation for IUGR and multiple congenital anomalies included imaging, genetics, and dermatology consults. A head ultrasound at day 0 demonstrated small right parietal (PVL) or hemorrhage (Figure 1 ultrasound, also at day 0, demonstrated multiple bilateral Figure 2). The infant also had a prenatal femur fracture on the right. All blood cultures were negative. Toxoplasmosis of Cytomegalovirus studies were negative.
Genetic analysis established no mutations at either loci,
LMNA or ZMPSTE24. Whole exome sequencing revealed no changes known to be related to the phenotype. Some variants of were detected and that information is being stored for future reference. Microarray initially suggested presence of a 255,000
The infant was treated for respiratory distress and presumed sepsis at initial presentation. This included initial ventilation via endotracheal tube and treatment with Ampicillin and Gentamicin although later switched to cefotaxime. Fluconazole was ultimately added for the potential of fungal infection.
The infant’s hospital stay was complicated by seizures
Because of the need for multiple pediatric subspecialty consults
hospital where she remained in critical condition. There she experienced worsening metabolic acidosis with fulminant sepsis
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Del Med J | October 2016 | Vol. 88 | No. 10
Abstract
