PICtoRIAL EssaY Skull radiographs as a guide for diagnosing systemic disorders (Pictorial Atlas) Subbarao Kakarla1,* 1 KIMS Foundation and Research Centre, Minister Road, Secunderabad - 500003, Telangana, India *Corresponding author: Prof. Kakarla Subbarao, MS, D.Sc. (HON), is to deal with osseous portions of the calvarium and FRCR, FACR, FICP, FSASMA, FCCP, FICR, FCGP, Chairman, KIMS to study the abnormalities which may contribute to [email protected] Foundation and Research Centre, Minister Road, Secunderabad - developmental abnormalities are included in the Received500003, Telangana,16 September India. Email:2015; Revised 20 November 2015; Tablethe final 1 and diagnosis. 2. Systemic disorders, congenital/ Accepted 1 December 2015; Published 11 December 2015 Table 1: Systemic disorders. Citation: Kakarla S. Skull radiographs as a guide for diagnosing l Congenital/ Developmental 50. 012 systemic disorders (Pictorial Atlas). J Med Sci Res. 2016; 4(1):41- l Copyright:DOI: http://dx.doi.org/10.17727/JMSR.2016/4- © 2016 Kakarla S. Published by KIMS Foundation and l InflammatoryInfections/ Infestations the terms of the Creative Commons Attribution License, which l Hemopoietic permitsResearch unrestricted Center. This use,is an distribution, open-access andarticle reproduction distributed inunder any medium, provided the original author and source are credited. l Metabolic and endocrinal l Introduction l NeoplasticToxic – Metastasis and myeloma As compared with the past, the current medical l Miscellaneous practice ignores the usefulness of taking skull radiographs. Radiographs of the skull may not Table 2: Congenital/ Developmental abnormalities. contribute to the diagnosis of brain injury, bleeding l Osteopetrosis or other space occupying lesions in the brain. l Pycnodysostosis disorders, but this paper does not include all brain l Camurati engelmann dysplasia lesions.Intracranial Conventional calcifications radiographs may give of athe clue skull to playbrain a l l Craniocleidodysostosis systemic disorders. Antero posterior and lateral Craniometaphyseal dysplasia – Pyle’s l viewsmajor roleare intaken arriving routinely. at the Advancedfinal diagnosis imaging of many like Fibrous dysplasia computed tomography (CT) and magnetic resonance l Osteogensis imperfecta imaging (MRI) may not be always necessary. l Phacomatosis However, clinical history and radiographs of the l Mucopolysaccharidosis other skeletal areas are very important in arriving l Craniostenosis at a final diagnosis. The main objective of this paper Vol. 4 | Issue 1 | January - March 2016 41 Osteopetrosis (Marble bone disease) is also called Common radiological findings The calvarium is dense and thick (more at the base) defective osteoclasts. Radiologically, bones are with narrowing of neural foramina. The paranasal Albers-schonberg disease which results from sclerotic and thick, but weak and brittle. Two sinuses are under developed (Figure 1a,b,c). separate sub types exists. One, infantile autosomal recessive osteopetrosis and two, benign adult autosomal dominant osteopetrosis. (a) (b) (c) Figure 1: a, b. Osteopetrosis – AP and lateral views of pediatric skull, c. Adult skull. Pycnodysostosis are also sclerotic (Figure 3a). However, from the It is a rare autosomal recessive bone dysplasia radiographs of the skull one cannot diagnose this characterized by osteosclerosis and short stature entity and radiographs of long bones are necessary (Figure 3b). essentialand is also for known normal as osteoclast Toulouse-Lautrec function. syndrome. It is due to genetic deficiency in cathepsin K, which is Common radiological findings The features include frontal bossing, Wormian bones, mid line defects and obtuse angle of the mandible (Figure 2a,b). (a) (b) Figure 3: bones, a. Lateral skull, b. Long bones. Camurati engelmann dysplasia – Dense sclerotic sclerosis of calvarial bones (Table 3) may be of help. At this juncture, a differential diagnosis of diffuse Figure 2a: Figure 2b: Craniometaphyseal dysplasia Open fontanelle, mandible with obtuse WormianPycnodysostosis bones. – angle.Pycnodysostosis – Dense long bones (Figure 4a,b). Basic cranium with flaring of metaphyseal ends of Camurati engelmann dysplasia Craniocleidodysostosis (CCD) It is a progressive diaphyseal dysplasia with sclerotic It is a developmental dysplasia. The radiological dense diaphyses of long bones. The skull bones characteristics of the skull include open fontanel, 42 Journal of Medical and Scientific Research Table 3: bones. Differential diagnosis of diffuse sclerosis of calvarial Developmental l Osteopetrosis l Pycnodystosis l dysplasia Camurati engelmann – Progressive diaphyseal (a) (b) l Figure 5a,b: l Pyle’sVan buchem’s disease disease- Craniometaphyseal dysplasia Wormian bones. CCD – Brachicephaly, midline defects and l Idiopathic hypercalcemia l Fibrous dysplasia l Hyperphosphatemia l Cyanotic heart disease l Hemopoietic Other causes l Hemolytic anaemia l Mastocytosis Figure 5c: l CCD - Note the dysplastic clavicles. monostotic, polyostotic or a part of Albright l MyelofibrosisHyper/ Hypoparathyroidism Renal osteodystrophy with secondary l syndrome. Radiological findings of craniofacial hyperparathyroidism appearancesfibrous dysplasia have include been expandeddescribed. outer One tableis purely with l Dilantin therapy lytic,little effectthe second on inner purely table. scleroticThree types and ofthe radiological third is l Fluorosis mixed sclerotic and lytic changes. Sclerotic changes are mainly in the basicranium and face. A lytic area l Paget’s disease surrounded by dense sclerosis is the skull bones, is Intypical the valut, of a “blister” the outer appearance. table is expanded with a lytic (Figure 6a,b,c,d). When the skull and facial bones are extensivelylesion in the involved centre. withThis sclerosis, is called ita is“bone described blister” as Leontiasis ossea (Figure 6e). (a) (b) Figure 4: Craniometaphyseal dysplasia, a. skull, b. Metaphyseal flaring of femora (Erlenmeyer flask appearance). midline defects and Wormian bones. Radiological as there is dysplasia of calvicles (Figure 5a,b,c). examination of the clavicles confirms the diagnosis Fibrous dysplasia (FD) replacement of the normal bone. It may be Figure 6a: It is developmental aberration with fibrous FD frontal bone – Sclerotic. Vol. 4 | Issue 1 | January - March 2016 43 Figure 7: OI - Wormian bones. Figure 6b: FD involving basicranium. Table 4: l OsteogenesisDifferential imperfectadiagnosis of Wormian bones. l Cleidocranial dysostosis l Pycnodysostosis l Cretinism l Rickets l Hajdu–Cheney syndrome (Figure 8) (c) (d) Figure 6c,d: FD of skull, lytic area with dense sclerotic border (Bone blister). Figure 8: Wormian bones and wide sutures. Hajdu-Cheney syndrome with scaphocephaly – Phacomatoses neurocutaneous disorders. These are multisystem Figure 6e: Leontiasis ossea. disordersThese are thatneuro-oculo-cutaneous have characteristic centralsyndromes nervous and system, ocular and cutaneous lesions of variable Osteogenesis imperfecta (OI) congenita & severity. The osseous system may also be involved in tarda (eight types of congenital forms) some of these (Table 5). Table 5: Some of the disorders. There are four major types, which are I - Mild, Blue l Tuberous sclerosis sclera; II - Perinatal, Lethal; III – Uncommon, Severe; l RadiologicalIV – Uncommon, features Resembles include 1. a variable spectrum. l NeurofibromatosisCystic angiomatosis Intrauterine recognition by ultrasound is known. l Sturgeweber syndrome Radiological features include fractures, lucent bones, l Turcot syndrome 4 (Figure 7). Basilar impression is often noted. l Gardener syndrome unossified skull bones with Wormian bones in Table 44 Journal of Medical and Scientific Research Tuberous sclerosis (Epiloia) The clinical triad includes sebaceous cysts over the Neurofibromatosis: Comparison between NF-1 and TableNF-2 (Table6: 6). Skull radiographs often overlap the intracranial face, seizures and mental deficiency of the brain. NF - 1 Comparison between NF-1NF – and2 NF-2. 1. Von Recklinghausen’s 1. Bilateral acoustic calcifications due to gliosis (Figure 9). disease schwannomas 2. 1/4000 (represents 90% 2. 1/150,000 (<10% of NF Figure 9: of NF cases) cases) Tuberous sclerosis 3. Chromosome 17 3. Chromosome 22 in bone resemble 4. Prominent skin 4. Minimal skin changes – Sclerotic islands manifestations - Periventricular calcifications. In NF2, bilateral acoustic schwannomas are common (Figure 11). Neurofibromatosis (NF) This is one of the neurocutaneous syndromes and these, NF1 and NF2 are important. Figure 11: eight different types have been described. Out of acoustic schwannomas.NF2- Bilateral macrocranium, asymmetrical skull, empty orbit Radiological findings of the skull in NF1 include mainly due to mesenchymal dysplasia rather than and lambdoidal sutural defect etc. The findings are neurofibromata (Figure 10a,b,c,d). Cystic angiomatosis In this entity, endothelial lined spaces representing lytic areas are seen throughout the skeleton. These may be vascular, lymphatic or both. Multilocular cystic lesions are noted predominantly in the axial skeleton. In the skull, multiple lucent areas are seen. With the suspicion radiographs of other bones are Figure 10a: Figure 10b: NF involving left orbit taken to confirm the diagnosis (Figure 12a,b). and frontal bone. suture on the left. NF – Oval defect in the lambdoid Figure 12a: Figure 12b: Cystic Multiple lucencies in the Multiple angiomas Figure 10c: Plexiform Figure 10d: skull.Cystic angiomatosis – inangiomatosis