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Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient with Steroid Sulfatase Deficiency

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Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient with Steroid Sulfatase Deficiency OBSERVATION ONLINE FIRST Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency Puja K. Puri, MD; Deepti M. Reddi, MD; Michele Spencer-Manzon, MD; Kristen Deak, PhD; Sonya U. Steele; Mohamad A. Mikati, MD Background: Several forms of ichthyosis are lateral ventricle. Constitutional microarray revealed the associated with neurologic manifestations, including typical approximately 1.5-Mb deletion of the steroid sul- Sjo¨gren-Larsson syndrome, Refsum disease, and mental fatase gene. retardation–enteropathy-deafness-neuropathy-ichthyosis- keratoderma (MEDNIK) syndrome. We report a case Conclusions: Steroid sulfatase deficiency is a cause of of X-linked steroid sulfatase deficiency, ichthyosis, sei- X-linked ichthyosis; however, our patient also had reti- zures, abnormal hair banding pattern, and unilateral nitis pigmentosa, seizures, and abnormal hair findings. polymicrogyria. The presence of abnormal hair with a banding pattern on polarized microscopy may be helpful for diagnosis; Observations: A 3-year-old Caucasian male with a his- however, this pattern is not specific to this disease. In tory of ichthyosis since birth presented with general- addition, to our knowledge, the presence of a malforma- ized tonic seizures. Findings from a physical examina- tion of cortical development has not been previously re- tion were remarkable for thin hair, retinitis pigmentosa, ported in patients with steroid sulfatase deficiency. and poor dentition. Polarized light microscopic exami- nation of all the hair samples demonstrated a banding pattern. Magnetic resonance imaging of the brain re- Arch Dermatol. 2012;148(1):73-78. vealed left hemispheric polymicrogyria with decreased Published online September 19, 2011. sulcal pattern and stable asymmetric dilation of the left doi:10.1001/archdermatol.2011.281 TEROID SULFATASE (STS) DE- the defect is associated with short stat- ficiency is an X-linked ich- ure, chondrodysplasia punctate, mental re- thyosis condition, classi- tardation, X-linked ichthyosis, Kallmann cally thought of as being syndrome,3,4 and ocular albinism.4 The size primarily a dermatologic con- of the deletion and the subsequent num- dition. A broader phenotype is beginning ber of disrupted genes affect the final phe- S 5 to emerge, and this disorder has been notype. Other conditions involving ich- shown to increase the risk for attention- thyosis with prominent neurologic signs deficient/hyperactivity disorder, autism, include Sjo¨gren-Larsson syndrome, Ref- and social communication deficits.1 The sum syndrome, and mental retardation– steroid sulfatase (STS) gene is located in enteropathy-deafness-neuropathy- Author Affiliations: Divisions chromosome Xp22.31 and codes for the ichthyosis-keratoderma (MEDNIK) of Dermatopathology (Drs Puri syndrome.6,7 and Reddi), Medical Genetics STS enzyme, which is present in a ubiq- (Dr Spencer-Manzon), uitous distribution. Deficiency of placen- Cytogenetics (Dr Deak), and tal sulfatase can lead to marked decrease REPORT OF A CASE Child Neurology (Ms Steele and in estrogens and dehydroepiandros- Dr Mikati), and Departments of terone during the last weeks of preg- HISTORY Pathology (Drs Puri, Reddi, and nancy, leading to birth complications.2 Af- Deak) and Pediatrics (Drs Spencer-Manzon and ter birth, this gene defect gives rise to The patient was born via cesarean deliv- 2 Mikati and Ms Steele), Duke X-linked ichthyosis. Approximately 10% ery owing to fetal distress at 38 weeks with University Medical Center, of cases are part of a more complex con- nuchal cord and meconium. He weighed Durham, North Carolina. tiguous deletion of the X chromosome, and 6 pounds and 2 ounces, was born with ich- ARCH DERMATOL/ VOL 148 (NO. 1), JAN 2012 WWW.ARCHDERMATOL.COM 73 ©2012 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/04/2021 thyosis, and had an otherwise unremarkable hospital stay. sis. Findings from additional studies included normal lev- Pyloric stenosis was diagnosed at 2 weeks, and the pa- els of plasma amino acids, acylcarnitine profile, and plasma tient underwent a pyloromyotomy at the age of 3 weeks. carnitine, L-carnitine, ammonia, lactate, peroxisomal Findings from computed tomographic (CT) scans and panel, and urine organic acids, and normal results from magnetic resonance imaging (MRI) performed at that time electrocardiography. showed an enlarged left lateral ventricle, thought to likely Chromosome analysis showed a normal male karyo- be within normal variation. At 3 years and 3 months of type, which ruled out a large genomic rearrangement such age, he presented with a 1-year history of atypical ab- as an X to Y translocation. Single-nucleotide polymor- sence seizures that usually lasted a few seconds, al- phism (SNP) microarray analysis was performed using though some episodes lasted several minutes, and con- the Affymetrix human genome-wide SNP 6.0 array (Santa sisted of staring, eye fluttering, unresponsiveness, head Clara, California). The microarray revealed a genomic loss drops, generalized limpness, and falling down. Once per of approximately 1.6 Mb in size involving chromosome week he had tonic seizures lasting about 2 minutes. In Xp22.31, with estimated genomic boundaries begin- addition, he had pallid breath-holding spells occurring ning at linear positions 6,477,902 and ending at 8,095,645 3 times per week when he got upset, and these occasion- (National Center for Biotechnology Information Build 36, ally progressed into his usual tonic seizures, with the hg18) (Figure 1). This deletion was consistent with the whole episode and seizure activity lasting about 2 min- known microdeletion syndrome, STS deficiency or X- utes. The patient received levetiracetam, which seemed linked ichthyosis (OMIM 308100). The KAL1 gene was to increase his seizures. not in the deleted interval. Fluorescence in situ hybridization (FISH) analysis of FAMILY HISTORY metaphase and interphase cells was performed using a probe specific for the STS region, RP11-269D06. It An older brother was noted to have ichthyosis and had showed signal patterns consistent with a deletion at had 1 febrile seizure. He was subsequently found to also chromosome Xp22.31, confirming the microarray find- have the STS deficiency due to Xp22.3 deletion. The pa- ings. Subsequent FISH analysis of the maternal blood tient’s mother had no abnormal skin findings and was sample also showed deletion of RP11-269D06 at healthy. She was found to be a carrier of the Xp22.3 de- Xp22.31, indicating maternal inheritance of STS defi- letion found in her sons. The remainder of the maternal ciency. The brother of the proband, also with abnormal family history was unremarkable. The patient’s father de- skin findings, showed deletion of RP11-269D06. Four scribed difficulties in school. The paternal grandmother protein-encoding genes (HDHD1, STS, VCX, PNPLA4) had neonatal losses in 2 pregnancies and a stillborn twin and 1 microRNA gene (MIR651) were located within gestation. There was a history of autism in a paternal sec- the common deletion. Of these, the only OMIM dis- ond cousin. The family was of French and mixed Cau- ease–associated gene was STS. casian descent. Consanguinity was denied. Electroencephalography (EEG) showed (1) intermit- tent runs of high-amplitude generalized spike and slow PHYSICAL EXAMINATION wave pattern with the lead in the left hemisphere; (2) bi- lateral spikes and slow waves, more prominent over the The patient was seen at age 3 years and 3 months. He left hemisphere with increased synchronization during had normal facies without notable dysmorphic features. wakefulness; and (3) focal slowing in the left frontocen- He had very poor dentition, xerosis, with dry scaling on tral region. During his seizures there was a diffuse spike his flanks, bilateral shins, and shoulders. His hair was short and slow wave pattern in the EEG that was consistent and sparse. His head circumference was 49.3 cm, which with atypical absence seizures, which manifested as rhyth- was at the 50th percentile. The patient’s height was at mic eye blinking, behavioral arrest, and occasional head the 20th percentile and weight at the 5th percentile. He dropping during wakefulness. There was an overall de- had a tendency to flex his right wrist and had a tight heel crease in the frequency of epileptiform activity follow- cord in his right foot. A motor strength examination re- ing the introduction of clonazepam and lamotrigine. vealed a strength score of 4 on a scale of 0 to 5 on the Findings from an MRI scan of the brain demon- right with increased tone. He did not have pincer func- strated polymicrogyria throughout the left hemisphere, tion in the right hand and could grasp large objects for which was smaller in size with decreased sulcal pattern less than a minute. Examination of the deep tendon re- and stable asymmetric dilation of the left lateral ven- flexes revealed 3ϩ on the right and 2ϩ on the left. Plan- tricle (Figure 2). Despite the cortical abnormality and tar responses were extensor on the right foot and flexor the decreased volume of white matter on the affected side, on the left. The patient revealed a wide-based gait with a the white matter appeared normal. To further evaluate right lower extremity weakness. Findings from an oph- the integrity of the white matter, we determined the ap- thalmologic examination demonstrated retinitis pigmen- parent diffusion coefficient (ADC) of white matter re- tosa (RP) and no glistening white dots on the retina. gions of interest on the diffusion-weighted imaging per- formed at ages 3 years and 3 months. The ADC values ANCILLARY TESTS (reported in ϫ10−5 cm2/s) were similar to values de- scribed in the literature and ranged from 0.83 to 0.94.8,9 Full sequencing analysis of the ALDH3A2 gene was com- Region of interest analyses of white matter areas re- pleted and did not show a mutation, thereby excluding vealed no apparent diffusivity differences between the 2 Sjo¨gren-Larsson syndrome from the differential diagno- hemispheres.
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