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A Case of Iniencephaly in a 36 Week-Old Human Female Fetus

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A Case of Iniencephaly in a 36 Week-Old Human Female Fetus ORIGINAL ARTICLE Eur. J. Anat. 17 (4): 209-219 (2013) A case of iniencephaly in a 36 week-old human female fetus Ernest F. Talarico, Jr.,1 and Theodore M. Hiemstra2 1Anatomy & Cell Biology, Indiana University School of Medicine-Northwest, Gary, Indiana, USA 2Department of Biological Sciences, Purdue University Calumet, Hammond, Indiana, USA SUMMARY ment of a NTD and useful information for clini- The purpose of this investigation was to charac- cians to distinguish iniencephaly from similar de- terize iniencephaly, a neural tube defect (NTD), fects. in a 36-38 week-old human female fetus. Inien- cephaly is a fatal, anatomic anomaly that lacks Key words: Human fetus – Iniencephaly – a direct etiology. However, multiple factors (i.e., Esophageal atresia – Renal atresia – Spina bifida medications, teratogens, nutrient deficiency, etc.) suggest a shared causation. Clinically, it is im- portant to differentiate iniencephaly from other NTDs and conditions that can be treated such Abbreviations: anterior (A); bronchi (B); carina as nuchal tumor, Klippel-Feil syndrome (KFS) (C); computed tomography (CT); esophagus (E); and Sprengel’s deformity, etc. The fetus was foot or inferior (F); left (L); magnetic resonance evaluated by physical examination, gross meas- imaging (MRI); methylenetetrahydrofolate re- urement, observation and dissection. To examine ductase (MTHFR); coronal (COR); axial (AX); the defects associated with iniencephaly, digital sagittal (SAG); multi-planar reformatting (MPR); radiologic image acquisition was done using full neural tube defect (NTD); posterior (P); right (R); -body x-ray films, and high-resolution CT Scans three-dimensional (3D); trachea (T); weighted and MRI Scans. Image analysis, multi-planar (Wtd); Klippel-Feil Syndrome (KFS); intrauterine reformatting, and 3D-reconstruction were done growth retardation (IUGR) on radiographic series. A large occipital encepha- locele protruded from the dorsal surface of the cranium secondary to a large defect in the occip- INTRODUCTION ital bone, and the frontal bone and left and right parietal bones were depressed. Severe retroflex- Iniencephaly is a rare and lethal NTD charac- ion of the head resulting in the absence of a neck terized by a triad of occipital bone defect, ra- and irregular curvature of the cervical spine was chischisis, and fixed retroflexion of the head seen in x-ray, CT and MRI. CT and MRI revealed with severe cervicothoracic lordosis (Sahid et al., esophageal atresia, renal atresia and hypo- 2000). Blemmyes (singular: Blemmy) were first plastic lungs. The present work has character- fictionalized by Pliny the Elder between 23 and ized a case of the rare deformity, iniencephaly, 79 AD as a race of monsters without heads with associated defects of rachischisis, cervi- and necks who had eyes, a nose and mouth on cothoracic lordosis, esophageal atresia, hypo- their chests (Eco, 2002; Nowaczyk, 2010). Now, plastic lungs and renal atresia. This study pro- it is commonly thought that the inspiration for the vides insight into the early embryonic develop- blemmy was the birth of an iniencephalic fetus (Nowaczyk, 2010). Akin to iniencephaly, mero- encephaly is a cephalic disorder that results from Corresponding author: Ernest F. Talarico, Jr., Anatomy & a NTD that occurs when the rostral neuropore of Cell Biology, Indiana University School of Medicine-Northwest, the neural tube fails to close, usually between rd th Dunes Medical Professional Building, Room 3028A, 3400 the 23 and 26 day of pregnancy, resulting in Broadway, Gary, Indiana 46408-1197, USA. Tel: 219-981-4356. E-mail: [email protected] Submitted: 14 March, 2013. Accepted: 21 May, 2013. 209 A Case of Iniencephaly the absence of a major portion of the brain, report on a case of iniencephaly in a 36-week-old skull, and scalp. In contrast, as the Greek word human female fetus discovered during anatomi- “inion” implies, the posteroinferior-most portion of cal dissection at the Indiana University School of the occipital bone, or occiput, is most affected in Medicine-Northwest (Gary, IN), and discuss find- iniencephaly. ings relative to the current literature. The applica- tion of CT and MRI technologies further clarify Saint-Hilare (Saint-Hilare, 1836) first described anomalies associated with this condition, and iniencephaly as associated with malformations of further differentiate this presentation from the the central nervous system, gastrointestinal typical case report. tract, respiratory system, renal system and cardi- ovascular system (Tugrul et al., 2007). Other associated abnormalities include hydrocephalus, MATERIALS AND METHODS encephalocele, meroencephaly, cyclopia, ar- throgryposis, genu recurvatum, holoprosenceph- Cadaveric specimen aly, omphalocele, absence of mandible, cleft lip and palate, diaphragmatic hernia, single umbilical This study was conducted with a 36-week-old artery, overgrowth of the arms compared to human, female fetus stored in Formal Fixx® legs, and club foot (Aleksic et al., 1983; Aytar et (Thermo Fisher Scientific) from the gross anat- al., 2007; Loo et al., 2001; Ramakrishnan et al., omy laboratory at the Indiana School of Medi- 1991). There are almost 200 cases reported in cine-Northwest (IUSM-NW; Gary, IN). This fe- the literature (Balci et al., 2001). Patients are tus was placed in a jar of formaldehyde on typically stillborn or die within hours after birth. November 7, 1957. To the best of our However, there are six (rare) reported cases of knowledge, this fetus had not been removed for relatively long-term (2-year) survival in patients analysis until Summer 2011. All federal and state with extremely mild forms of iniencephaly (Aytar guidelines were followed regarding the use and et al., 2007; Kulkarni et al., 2011). Incidence care of cadaveric materials, as well as all regu- varies from 0.1 to 10:10,000 (Aytar et al., 2007; lations set forth by the State of Indiana Anatomi- Kulaylat and Narchi, 2000; Lewis, 1987), and cal Education Program. iniencephaly is nine times more likely in female babies (Kulaylat and Narchi, 2000). Not only Gross examination and photography does iniencephaly cause obstructed labor, but it also carries the 1 - 5% risk of recurrence in Detailed physical examination of fetal charac- subsequent pregnancies (Balci et al., 2001). teristics was done with the assistance of a The exact pathogenesis of iniencephaly is still local pediatric geneticist. A “Donor Report,” sim- unknown; however, there are proposed theories, ilar to an autopsy report (Talarico, 2010, 2013) most of which view the NTD from the primary used by the IUSM-NW on adult, human cadav- neural anomaly standpoint. While no chromoso- er donors, was adapted to record gross obser- mal anomalies are implicated (Balci et al., 2001), vations and quantitative data. Measurements medications such as vinblastine, streptonigrin, done were head circumference, crown-to-rump triparano, sulphonamide, tetracycline, antihista- length, crown-to-heel length, chest circumfer- mines, antitumor agents, and Clomiphene, and ence, internipple distance, biparietal diameter, conditions including hyperhomocysteinemia and outer and inner canthal distances, ear length maternal diabetes have been reported to be as- and position, philtrum length, palpebral fissure sociated with iniencephaly in humans length, hand length, middle finger length and foot (Bhambhani and George, 2004; Yesim et al., length. Digital photography of the external fea- 2010). Differential diagnoses include meroen- tures was done using a NIKON D3100 SLR Cam- cephaly with spinal retroflexion, Klippel–Fiel syn- era (B&H Foto & Electronic Corporation, NY) drome (KFS), Sprengel’s deformity, nuchal tu- equipped with an 18-55 mm VR NIKKOR Macro mors such as teratoma, goiter, and lymphangio- lens and a Nikon 40 mm f/2.8G AF-S DX NIK- ma and Jarcho–Levin syndrome (Kulkarni et al., KOR 2200 VR Micro lens. All observations and 2011). measurements were compared with centile Secondary to the wide-range of differential charts and average growth patterns seen in ear- diagnoses that can be addressed with surgery ly human development. or medical management, as well as possible causative factors and obstetrical complications, X-Ray film imaging it is important that clinicians and basic scien- Plain x-ray imaging was done in the radiology tists understand the characteristics of inien- suite located on the second floor of the Dunes cephaly, which will lead to more accurate di- Medical Professional Building of the IUSM-NW. agnosis and reporting, as well as to an eventual The following plain films were obtained: (1) ante- comprehensive understanding of the factors rior-posterior (AP) chest; (2) AP abdominopel- and mechanisms that result in this condition. We 210 E.F. Talarico, Jr., and T.M. Hiemstra Table 1. Age-specific item analysis and characteristics ASSESSMENT ITEM MEASUREMENTS Head Circumference* 20.1 cm Biparietal Diameter 5.6 cm Outer Canthal Distance 4.7cm Head & Neck Inner Canthal Distance 1.3 cm Ear Length 1.8 cm (R); 1.8 cm (L) Philtrum Length 0.2 cm (underdeveloped without curvature) GESTATIONAL Palpebral Fissure Length 1.5 cm (R); 1.5 cm (L) age Crown-to-Rump Length* 16.5 cm Hand Length 4.1 cm (R); 3.9 cm (L) Musculoskeletal Anatomical Hand Length 2.3 cm (R); 2.2 cm (L) Middle Finger Length 1.8 cm (R); 1.7cm (L) Foot Length (heel-to-big toe) 5.1cm (R); 5.2 cm (L) Thorax Internipple Distance 3.5 cm Standing Height UTP Musculoskeletal Supine Length UTP GROWTH Crown-to-Heel Length* 28.8 cm age Thorax Chest Circumference* 21.0 cm Other Body Weight
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