He is short for his age. The right lower limb was shortened and externally rotated. The greater trochanter was thickened, irregular, and at higher level compared to opposite side. There is fixed flexion deformity of 20° with further flexion up to 120° with further flexion restricted due to pain and spasm. Abduction and internal rotation is restricted. There is 1 cm shortening. Trendelenburg's sign was positive with Trendelenburg gait Figure 3.
In view of the above clinical findings, we took opinion from the pediatrics, dermatology, ophthalmology, and neuromedicine specialties. They pointed to the possibility of phakomatoses. Computer tomography of the head showed fusion of the cerebellar hemisphere. MRI Figure 4of the brain shows absent cerebellar vermis with fusion of the bilateral cerebellar hemisphere and prominent interthalamic adhesion suggestive of rhombencephalosynapsis. The clinical findings and MRI brain are consistent with GLH syndrome.
The radiograph of the hip Figure 5was showing avascular necrosis of capital femoral epiphysis on the right side with multiple areas of sclerosis and lysis, probably in fragmentation stage. There are lateral subluxation, horizontal growth plate, diffuse metaphyseal reaction, and Gage's sign (head-at-risk sign) of Perthes disease. MRI right hip Figure 6shows features of flattening of the right femoral head with irregular surface contour and loss of volume. Femoral head appears sclerotic with loss of signal intensity in all sequences. Few irregular ovoid cystic foci are noted in the femoral metaphyseal region. Clinically and radiologically, the findings are consistent with Perthes disease. The ethical committee clearance and informed written consent were obtained. We have treated the child with arthrodiastasis for remodeling of femoral capital epiphysis followed by varus derotational osteotomy Figure 7for containment of the head. After 12-month follow-up, the child is doing well with range of movements nearing normal in all planes.
Phakomatoses are rare congenital disease due to abnormal development of ectoderm, affecting brain, and cutaneous tissues. Even though there is no association with mesodermal development, certain skeletal abnormalities are seen in association in with certain phakomatosis such as limb-length discrepancy, scoliosis, spinal dysraphism, hemihypertrophy, syndactyly, and premature eruption of the teeth. 11 In 2008, Ching Wu et al. reported a case of phakomatosis cesioflammea associated with pectus excavatum. 12 Neurofibromatosis is associated with spinal deformities, widening of neural foramen, and intraspinal neurofibromas. It is also associated with tibial dysplasia. 13 , 14
GLH is a very rare phakomatosis described by Gomez in 1979 and later by Lopez Hernandez in 1982. 15 , 16 The exact etiology of this condition is unknown, and there is no gender predilection. Most cases are sporadic. 8 Even though several brain anomalies are associated with it, the most characteristic feature is the dorsal fusion of the cerebellar hemisphere. Other anomalies include hypogenesis of the vermis, fusion of the dentate nuclei, and superior cerebellar peduncles. Ventriculomegaly (hydrocephaly), absent septum pellucidum, and hypoplastic corpus callosum are also seen in GLH. 17 , 18 The clinical feature of GLH can vary considerably in severity. The typical alopecia in GLH is bilateral symmetrical band-like involvement in the parietal region. 19 Typically, the ophthalmic branch of trigeminal nerve is involved in this condition. Even though a few patients with normal cognitive function in GLH have been reported, most of the cases are having mental retardation. 20 Neuropsychiatric symptoms such as depression, bipolar disorder, obsessive compulsive disorder, and suicidal tendency are reported in isolated rhombencephalosynapsis and also in GLH. 6 , 21
GLH is not associated with any other diseases. However, one case of growth hormone deficiency was reported along with GLH. 21
LCPD is a self-limiting condition characterized by loss of blood supply to the growing capital femoral epiphysis followed by revascularization and remodeling. 22 The risk factors for the development of Perthes disease are low socioeconomic status, delayed skeletal maturity, low birth weight, short stature, and systemic hormonal changes. 23 Children with LCPD usually present with painless limping and feature of coxa vara with thickened and elevated trochanter. It usually affects boys in the age group of 4–12 years. There is no association between LCPD and any other phakomatosis described in the whole of the English biomedical literature. The sporadic association of Perthes disease and trichorhinophalangeal syndrome is published. 24
We presented the case of a 9-year-old boy with pain and limping on the right hip of 6-month duration. The orthopedic examination of his right hip is consistent with Perthes disease. The general, ophthalmic, and neurological examinations, including MRI studies, are diagnostic of GLH syndrome. This is the first ever reported case of any phakomatosis with LCPD and the first ever association of GLH with Perthes disease with clinical and radiological features suggestive of Perthes disease. To the best of our knowledge, no case has been reported earlier, associating Perthes disease with phakomatoses.
LCPD is a common pediatric hip problem in our part of the world – south western part of India. GLH syndrome is a rare variety of phakomatoses. Most of the cases are reported from South America. No single case of GLH syndrome has been reported from our part of the world. Moreover, association of Perthes disease with no phakomatoses has been reported ever. Even though there was some difficulty in getting containment of the hip, the association of GLH with Perthes disease did not have any impact on outcome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
1. Neau JP, Godeneche G, Mathis S, Guillet G. Neurodermatology Handb Clin Neurol. 2014;121:1561–94
2. Yanoff M, Duker JS. Ophthalmology.Philadelphia: Elsevier Health Sciences; 2009 p.;: Ophthalmology Philadelphia: Elsevier Health Sciences; 2009 p 937
3. GE . Phakomatosis Medcyclopaedia Archived from the Original on --. 5;: Phakomatosis Medcyclopaedia Archived from the Original on 2012-02-05
4. Fernández-Jaén A, Fernández-Mayoralas DM, Calleja-Pérez B, Muñoz-Jareño N, Moreno N. Gomez-Lopez-Hernandez syndrome
: Two new cases and review of the literature Pediatr Neurol. 2009;40:58–62
5. de Mattos VF, Graziadio C, Machado Rosa RF, Lenhardt R, Alves RP, Trevisan P, et al Gómez-López-Hernández syndrome in a child born to consanguineous parents: New evidence for an autosomal-recessive pattern of inheritance? Pediatr Neurol. 2014;50:612–5
6. Gomy I, Heck B, Santos AC, Figueiredo MS, Martinelli CE Jr. Nogueira MP, et al.Two New Brazilian patients with Gómez-López-Hernández syndrome: Reviewing the expanded phenotype with molecular insights Am J Med Genet A. 2008;146A:649–57
7. Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A, et al Gómez-lópez-hernández syndrome: Reappraisal of the diagnostic criteria Eur J Pediatr. 2010;169:1523–8
8. Poretti A, Bartholdi D, Gobara S, Alber FD, Boltshauser E. Gomez-lopez-hernandez syndrome
: An easily missed diagnosis Eur J Med Genet. 2008;51:197–208
9. Abdel-Salam GM, Abdel-Hadi S, Thomas MM, Eid OM, Ali MM, Afifi HH, et al Gómez-López-Hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone Am J Med Genet A. 2014;164A:480–3
10. Choudhri AF, Patel RM, Wilroy RS, Pivnick EK, Whitehead MT. Trigeminal nerve agenesis with absence of foramina rotunda in Gómez-López-Hernández syndrome Am J Med Genet A. 2015;167A:238–42
11. Fernández-Guarino M, Boixeda P, de Las Heras E, Aboin S, García-Millán C, Olasolo PJ, et al Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature J Am Acad Dermatol. 2008;58:88–93
12. Wu CY, Chen PH, Chen GS. Phacomatosis cesioflammea associated with pectus excavatum Acta Derm Venereol. 2009;89:309–10
13. Hsu LC, Lee PC, Leong JC. Dystrophic spinal deformities in neurofibromatosis.Treatment by anterior and posterior fusion J Bone Joint Surg Br. 1984;66:495–9
14. Kumarmeena R, Arun Kumar GC, Nongthon Singh S, Nepram S. Congenital pseudoarthrosis of the tibia: A case report IOSR J Dent Med Sci. 2013;3:21–2
15. Gomez MR. Cerebellotrigeminal and focal dermal dysplasia: A newly recognized neurocutaneous syndrome Brain Dev. 1979;1:253–6
16. López-Hernández A. Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle).Report of two cases Neuropediatrics. 1982;13:99–102
17. Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, et al Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children Neuropediatrics. 2002;33:209–14
18. Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV. MR imaging of rhombencephalosynapsis: Report of three cases and review of the literature AJNR Am J Neuroradiol. 1991;12:957–65
19. Purvis DJ, Ramirez A, Roberts N, Harper JI. Gomez-lopez-hernandez syndrome
: Another consideration in focal congenital alopecia Br J Dermatol. 2007;157:196–8
20. Muñoz R MV, Santos AC, Graziadio C, Pina-Neto JM. Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): Description of three new cases and review Am J Med Genet. 1997;72:34–9
21. Brocks D, Irons M, Sadeghi-Najad A, McCauley R, Wheeler P. Gomez-Lopez-Hernandez syndrome
: Expansion of the phenotype Am J Med Genet. 2000;94:405–8
22. Kim HK. Pathophysiology and new strategies for the treatment of Legg-Calvé-Perthes disease J Bone Joint Surg Am. 2012;94:659–69
23. Bahmanyar S, Montgomery SM, Weiss RJ, Ekbom A. Maternal smoking during pregnancy, other prenatal and perinatal factors, and the risk of Legg-Calvé-Perthes disease Pediatrics. 2008;122:e459–64
24. Sugiura Y. Tricho-rhino-phalangeal syndrome associated with Perthes-disease-like bone change and spondylolisthesis Jinrui Idengaku Zasshi. 1978;23:23–30
Keywords:© 2017 President and Fellows of Harvard College
Cerebellotrigeminal dermal dysplasia; Gomez-Lopez-Hernandez syndrome; Legg–Calve–Perthes disease; phakomatoses