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| LETTER TO EDITOR |
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| Year : 2018 | Volume
: 9
| Issue : 1 | Page : 36-37 |
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Could this be Milroy's disease? Our experience
Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital/Bayero University Kano, Kano, Nigeria
| Date of Web Publication | 24-Jan-2018 |
Correspondence Address:
Dr. Ibrahim Aliyu
Department of Paediatrics, Aminu Kano Teaching Hospital, Kano
Nigeria
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/mjmsr.mjmsr_44_17
How to cite this article:
Aliyu I. Could this be Milroy's disease? Our experience. Muller J Med Sci Res 2018;9:36-7 |
Dear Editor,
Milroy's disease is a rare congenital abnormality of the lymphatic system resulting in obstruction and accumulation of lymph, lymphedema, and tissue hypertrophy. It was first described by Rudolf Virchow in 1863; however, it was named by Sir William Osler for William Milroy who further described the disease in 1912.[1] Our index case was a 4-month-old boy who presented with complaint of body swelling symmetrically affecting the upper and lower limbs which were noticed shortly after birth with. This had progressively increased; however, there was no history of pain or fever, no difficulty with breathing, or decreased urine output with. He was delivered at term to a nonconsanguineous family setting and there was no family history of similar problem. The pregnancy and delivery were not adversely eventful. On examination there was peripheral edema affecting both upper and lower limbs; those of the lower limbs extending up to the thigh [Figure 1] which were not tender. All other systemic examinations were essentially not remarkable. The full blood count, electrolytes, urea and creatinine, serum protein and albumin, and thyroid function test results were all normal. However radioscintigraphy of the extremities and genetic studies were not done due to nonavailability of such facilities. Milroy's disease is an autosomal dominant disorder with interfamilial and interfamilial variability; however, de novo mutation has been reported in the literature.[2] Our case lacked a family history of any form, which makes spontaneous mutation a plausible explanation in the index case. Furthermore, the disorder is more common in males and may be associated with other defects such as hydrocele, urethral abnormalities, and upward slanting toenails;[3] however, these were absent in the index case. Usually the lower limbs are affected and it may be asymmetrical; however symmetrical involvement is the most common;[3] in addition the upper limbs were affected in the index case. Mutation in the FLT4 gene which codes for vascular endothelial growth factor receptor-3 regulates development of the lymphatic system.[4] Diagnosis of Milroy's disease is clinical; however lymphatic scintigraphy and genetic analysis are contributory. Although DNA analysis was not done in the index case, the clinical features were typical of the disorder. Other causes of congenital lymphedema include Turner's syndrome (occurs in morphologic female); Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; Noonan syndrome; hypotrichosis-lymphedema-telangiectasia syndrome; lymphedema-distichiasis syndrome; Meige disease; and lymphedema with yellow nails [3],[5] were quite distinguishable from the index case because of their peculiar presentations. However, the vascular endothelial growth factor C (VEGFC)-related lymphedema may be difficult to differentiate from Milroy's disease; therefore testing for VEGFC is important in this case.[4]
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Milroy WF. An undescribed variety of hereditary edema. N Y Med J 1892;56:505-8.  |
| 2. | Spiegel R, Ghalamkarpour A, Daniel-Spiegel E, Vikkula M, Shalev SA. Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. J Hum Genet 2006;51:846-50. [ PUBMED] |
| 3. | |
| 4. | Gordon K, Schulte D, Brice G, Simpson MA, Roukens MG, van Impel A, et al. Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant Milroy-like primary lymphedema. Circ Res 2013;112:956-60. [ PUBMED] |
| 5. | Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations. Eur J Hum Genet 2014;22:881-7. [ PUBMED] |
[Figure 1]
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