LymphedemaV1, Istex, Corpus, bibRecord, 004319

Lymphoscintigraphic Manifestations of Hennekam Syndrome

Identifieur interne : 004319 ( Istex/Corpus ); précédent : 004318; suivant : 004320

Lymphoscintigraphic Manifestations of Hennekam Syndrome

Auteurs : Stanley G. Rockson ; Maribeth De Los Santos ; Andrzej Szuba ; Stanley G. Rockson

Source :

Angiology [ 0003-3197 ] ; 1999-12.

RBID : ISTEX:8E775379B5FB9F1821759B7F502644E36837EC7C

Abstract

Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.

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https://api.istex.fr/document/8E775379B5FB9F1821759B7F502644E36837EC7C/fulltext/pdf

DOI: 10.1177/000331979905001207

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<meta-value>1017 Lymphoscintigraphic Manifestations of Hennekam SyndromeA Case Report SAGE Publications, Inc.1999DOI: 10.1177/000331979905001207 Stanley G. Rockson MD Maribeth de los Santos MD Andrzej Szuba MD, PhD Stanley G. Rockson MD Division of Cardiovascular Medicine Stanford University School of Medicine Stanford, California 94305 STANFORD, CALIFORNIA ABSTRACT Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation. From the Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California. ©1999 Westminster Publications, Inc., 708 Glen Cove Avenue, Glen Head, NY 11545, U.S.A. 621018 Introduction In 1989, Hennekaml described a series of four patients with a heritable, autosomal recessive disorder characterized by congenital lymphedema, intestinal lymphangiectasia, facial anomalies, and mental retardation. The existence of this syndrome was confirmed with a description of a fifth case.2 2 The typical facies of the Hennekam patient, including flattening of the nasal bridge with hypertelorism, epicanthal folds, ear defects, micrognathia, tooth anomalies, and ear defects, has been attributed to intrauterine ' facial lymphedema. 3,4 Differentiation of Hennekam syndrome from other congenital disorders can pose difficulties. The intestinal lymphangiectasia that is characteristic of the syndrome is common to numerous genetic syndromes in which lymphatic dysplasia may play a role, 1,5>6 Furthermore, subsequent case reports of patients with apparent Hennekam syndrome have included novel clinical features, such as craniosynostosis, renal abnormalities, vesi- coureteral reflux, and cardiac defects, 7,8 which are absent from the index case descriptions and are less readily linked in pathogenesis to the un- trauterine lymphedema. Furthermore, another patient has been reported with manifestations similar to the Hennekam syndrome but lacking the defect of mental retardation while simultaneously demonstrating a much milder form of lymphedema.9 Given the apparent pleomorphism in this syndrome, the diagnosis may, at times, hinge upon a very accurate demonstration of the lymphatic abnormality. We herewith report a case of Hennekam syndrome in which accurate diagnosis was substantially enhanced by objective demonstration of lymphedema. _ ~ z Case Report A 13-year-old female was the product of a spontaneous vaginal delivery at 32 weeks to a 27-year- old GIPO mother. The parents were consan- guineous. At birth, the patient was hydropic and required brief ventilatory support. The fluid retention resolved slowly over the first week of life. She was noted to have craniosynostosis with dys- morphic features, including telecanthus, abnormal ears, and brachydactyly. Feeding difficulty and emesis necessitated gavage feedings for the , first 6 months of life. Cranial tomographic examination (CT scan) disclosed modest changes of brain underdevelopment, and a patent ductus ar- teriosus was ligated at 3 weeks of age; a small atrioseptal defect (ASD) was also described. Genetic evaluation disclosed normal chromosomal analysis (46 XX). Conductive hearing loss was diagnosed at age 6, and subsequently, because of short stature, she was treated over an 18- month interval with human growth hormone. At the time of most recent evaluation, she once again demonstrated short stature ( < 5th percentile) and had an abnormal facies, characterized by prominent forehead with shallow supraorbital ridges, epicanthal folds, flat nasal bridge, low-set ears, and retruded mandible. There was ridging of sagittal and bilateral coronal sutures. Hypodontia was present, with absence of upper canines bilaterally. Progressive edema of the lower extremities had first been noted by the parents approximately 6 months before her evaluation. On examination, there was evidence of pronounced, bilateral nonpitting edema of the lower extremities, extending from the level of the ankle to the knee. Many of the features of this patient's clinical course and facies suggested the likelihood of Hennekam syndrome as the diagnosis. Because of the pivotal role of a lymphatic disorder in establishing this diagnosis, an indirect radionuclide lymphoscintigram was obtained (Figure 1), which confirmed the presence of lymphedema through the demonstration of severe, bilateral stasis and accumulation of the radionuclide within the cutaneous structures of the lower extremities ("der- mal backflow") with exquisite radionuclide definition of the popliteal lymph nodes. These findings suggest enhanced transport through the deep lymphatic system and are characteristic of lymphatic insufficiency and lymphostasis.lo Through the results of this lymphoscinti- graphic examination, the patient's diagnosis of Hennekam syndrome was established. Conservative physiotherapy of lower extremity lymphedema was instituted. Discussion , Slight degrees of congenital lymphedema are described with some regularity in the general population and likely reflect a normal developmental variability in the regression of lymphedema that is present in every fetus.3,11 More severe degrees 631019 Figure 1. Indirect radionuclide lymphoscintigram confirmed presence of lymphedema. _ of childhood lymphedema are much less commonl2 and are generally a consequence of the lymphatic dysfunction that ensues from trauma, neoplasia, infection, and ionizing radiation. 13 Hennekam syndrome typifies another category of childhood lymphedema, in which presence of lymphedema and intestinal lymphangiectasis reflect the intrauterine lymphatic dysfunction consequent to the underlying genetic defect. Because of the overlapping clinical presentations of many of these congenital disorders, accurate identification of the component features of these syndromes, such as lymphedema, can be paramount to the diagnosis. We have described the clinical presentation of a patient in whom the appropriate diagnosis of Hennekam syndrome hinged upon accurate identification of her lymphedema. Although lymphedema can often be reliably characterized by physical examination, the relatively mild and un- characteristically late-appearing edema in this case suggested the utility of noninvasive testing. Indirect radionuclide lymphoscintigraphy is a reliable and reproducible method to confirm the diagnosis of lymphedema.14,11 The radiolabelled macromolecular tracer (99mTc-filtered sulfur colloid) is injected intradermally or subdermally within one of the interdigital spaces of the affected limb. Intradermal injection has been recommended for optimal evaluation of the epifascial lymphatic transport. 14 The progress of the radionuclide through the lymphatic system is followed by a radioscintigraphic camera, and the rate of tracer appearance within the lymph node is quantifiable. Lymphoscintigraphy enables adequate assessment of lymphatic function and visualization of major lymphatic trunks and lymph nodes. In lymphedema of any cause, the proximal advance of the radionuclide is delayed, and its accumulation distally in the dilated channels of the dermis is manifest as a "dermal backflow" pattern. Typical abnormalities observed in lymphedema, in addition to the lymphatic stasis and so-called dermal backflow observed in the case under discussion, include absent or delayed transport of tracer, crossover filling with retrograde backflow, and either absent or delayed visualization of lymph nodes.l6 Beyond Hennekam syndrome, congenital lymphedema is frequently associated with other heritable syndromes of genetic origin, among them Nonne-Milroy disease,17 lymphedema with microcephaly,8,18,19 Noonan syndrome, 20,21 Ullrich Turner syndrome,22 and lymphedema-hypopar- athyroidism syndrome.22 Inasmuch as lymphoscintigraphy is probably the best of the readily available imaging modalities for the functional evaluation of lymphatic system,23 it should be considered to be a valuable diagnostic adjunct in the evaluation of these challenging patients. E mail: rockson@leland.stanford.edu 641020 - References Hennekam R., Geerdink R., Hamel B., et al: Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34:593-600, 1989. Gabrielli O. , Catassi C., Carlucci A., et al: Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome . Am J Med Genet 40:244-247, 1991. Opitz J.: Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema . Am J Med Genet 24:127-129, 1986. Jones K.: Jugular lymphatic obstruction sequence. In: Smith's Recognizable Patterns of Human Malformation. Philadelphia: W. B. Saunders, 1988, pp 560-561. Mistilis S., Skyring A., Stephen D.: Intestinal lymphangiectasia. Mechanism of enteric loss of plasma-protein and fat. Lancet 1:77-80, 1965. Vardy P., Lebenthal E., Shwachman H.: Intestinal lymphangiectasia : A reappraisal. Pediatr 55:842-851, 1975. Cormier-Daire V., Lyonnet S., Lehnert A., et al: Craniosynostosis and kidney malformation in a case of Hennekam syndrome. Am J Med Genet 57:66-68, 1995. Angle B., Holgado S., Burton BK, et al: Microcephaly, lymphedema, and chorioretinal dysplasia: Report of two additional cases. Am J Med Genet 53:99-101, 1994. Yasunaga M., Yamanaka C., Mayumi M., et al: Protein-losing gastroenteropathy with facial anomaly and growth retardation: A mild case of Hennekam syndrome. Am J Med Genet 45:477-480, 1993. Pecking A., Cluzan R., Desprez-Curely J., et al: Indirect lymphoscintigraphy in patients with limb edemas. Phlebology 1:215-217, 1986. Van der Putte S.: The development of the lymphatic system in man. Adv Anat Embryol Cell Biol 51:1-58, 1975. Szuba A., Rockson S.: Lymphedema: Classification, diagnosis and therapy. Vasc Med (in press). Lewis J., Wald E.: Lymphedema praecox. J Pediatr 104:641-648, 1984. 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<mods version="3.6"><titleInfo lang="en"><title>Lymphoscintigraphic Manifestations of Hennekam Syndrome</title>
<subTitle>A Case Report</subTitle>
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<titleInfo type="alternative" lang="en" contentType="CDATA"><title>Lymphoscintigraphic Manifestations of Hennekam Syndrome</title>
<subTitle>A Case Report</subTitle>
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<name type="personal"><namePart type="given">Stanley G.</namePart>
<namePart type="family">Rockson</namePart>
<namePart type="termsOfAddress">MD</namePart>
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<name type="personal"><namePart type="given">Maribeth</namePart>
<namePart type="family">de los Santos</namePart>
<namePart type="termsOfAddress">MD</namePart>
</name>
<name type="personal"><namePart type="given">Andrzej</namePart>
<namePart type="family">Szuba</namePart>
<namePart type="termsOfAddress">MD, PhD</namePart>
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<name type="personal"><namePart type="given">Stanley G.</namePart>
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<abstract lang="en">Hennekam syndrome is a rare, recently described genetic disorder in which facial anomalies and mental retardation accompany congenital lymphedema and intestinal lymphangiectasia. Several other somatic abnormalities have variously been described, as have milder degrees of lymphatic dysfunction. The authors herein describe a case of Hennekam syndrome in which the diagnostic difficulties were partially overcome by the judicious use of radionuclide scintigraphy to verify the lymphedematous component of the patient's presentation.</abstract>
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<identifier type="ISSN">0003-3197</identifier>
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<number>12</number>
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Lymphoscintigraphic Manifestations of Hennekam Syndrome

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