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Sandifer Syndrome: an Unappreciated Clinical Entity

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    ZUSAMMENFASSUNG Angeborene Arrhrogryposis multiplex hervorgerufen durch eine angeborene Myasthenie Verminderte fetale Bewegungen konnen eine Arhrogryposis multiplex hervorrufen. Es

    gibt mehrere bestimmte neuromuskulare Erkrankungen, die als Ursache fur dieses Syndrom in Frage kommen; die angeborene Myasthenie ist bisher jedoch nicht als mogliche Ursache in Betracht gezogen worden. Die Autoren berichten uber einen Fall einer angeborenen Myasthenie, die zu einer Arthrogryposis multiplex gefiihrt hat.

    RESUMEN Artrogriposis multiple conghita debida a miastenia congknita

    La disminuci6n de movimientos fetales puede causar artrogriposis mliltiple congknita. Diversas alteraciones neuromusculares diferentes pueden causar este sindrome, per0 la miastenia conghi ta no ha sido considerada como una causa posible. Los autores aportan un caso de miastenia congknita que dio lugar a una artrogriposis mliltiple congknita.

    REFERENCES Brooke. M. H. (1973) Coneenital fiber tvoe diserooortion. In: Kakulas. B. A. fEd.) Proceedings o f the

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    Byers, R. K., Banker, B. Q. (1961) Infantile muscular atrophy. Archives of Neurology, 5, 140-164. Clarke, R. R., van de Velde, R. L. (1971) Congenital myasthenia gravis. American Journal of Diseuses of Children. 122, 356-361.

    Colling-Salting, A. (1978) Enzyme histochemistry on skeletal muscle of the human fetus. Journal of the Neurological Sciences, 39, 169- 185.

    Donner, M., Rapola, J., Somer, H. (1975) Congenital muscular dystrophy. Neuropadiatrie, 6, 239-258. Drachman. D. B. f1971) The svndrome of arthrogrvDosis multiolex coneenita. Birth Defects. Oriainal -.

    Article Series, 7,(2), 90-97. . - Y - Banker. B. 0. f 1961) Arthrogryposis multiplex congenita. Archives o/ Neurology. 5, 77-93. Jago, R. H. (1970) Arthrogryposis following -treatment of maternal tetanus with- muscle relaxants.

    Krugliak, L., Gadoth, N., Behar, A. ( 1978) Neuropathic forms of arthrogryposis multiplex congenita. Archives of Disease in Childhood, 45, 277-279.

    Journal o the Neurological Sciences, 37, 179- 185.

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    and adolescence. Neurology, 10, 1007-1014.

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    myasthenia gravis. Lancet, 1, 441-442.

    McComb, R . D., Markesbury, W. R., OConnor, w. N. (1979) Fatal neonatal nemaline myopathy with Millichap, J. C., Dodge, P. R. (1960) Diagnosis and treatment of myasthenia gravis in infancy, childhood

    Sarnat, H. B., OConnor, T., Byrne, P. A. (1976) Clinical effects of myotonic dystrophy on pregnancy

    Vincent, A,, Newson-Davies, J. (1979) Absence of anti-acetylcholine receptor antibodies in congenital

    Sandifer Syndrome: an Unappreciated Clinical Entity

    Steven L. Werlin Bernard J. DSouza Walter J. Hogan Wylie J. Dodds Ronald C. Arndorfer

    Introduction Since the first description of the Sandifer

    syndrome (Kinsbourne and Oxon 1964),

    Correspondence to Steven L. Werlin, M.D., Department of Pediatrics, Milwaukee Childrens Hospital, 1700 West Winconsin Avenue, Mil- waukee, Wisconsin 53233.


    only a few reports of the symptom complex of hiatal hernia, gastro-esophageal reflux, body posturing and torticollis have appeared in the medical literature (Sutcliffe 1969, Gellis and Feingold 197 1, Bray et al. 1977, Murphy and Gellis 1977). Children with this condition are frequently


    considered to have a primary neurological disease (Snyder 1969, Chutorian 1974, CASE 1 Bray et a/. 1977); consequently, early A two-week-old girl was admitted to hospital

    for episodes of body stiffening followed by apnea,

    disorder is important if were preceded by coughing, sneezing and emesis. exhaustive neurological investigations are Full extension of all extremities occurred during to be avoided. Further, accurate diagnosis the apneic spells. Laboratory evaluation, in- of the Sandifer syndrome allows ap- cluding blood and cerebrospinal fluid cultures

    and EEG, were normal. An upper gastro- propriate therapy for this benign 'On- intestinal series demonstrated reflux of the barium dition: response to treatment generally is from the stomach into the esophagus. On excellent . esophageal manometric study, resting lower

    We report five cases of the syndrome. esophageal sphincter pressure was IOmmHg. Esophageal manometric studies and Multiple episodes of spontaneous gastro-

    esophageal reflux were demonstrated by an intraluminal pH monitoring were intraluminal pH electrode. Ten minutes after the in confirming the diagnosis* I n One subcutaneous injection of bethanechol (0.075mg/ patient, gastro-esophageal reflux was kg). lower esophageal sphincter pressure rose to demonstrated only by intraluminal pH 38mmHg. After the bethanechol injection monitoring. spontaneous reflux no longer occurred. Eso-

    phageal peristalsis was normal. She was treated with antireflux measures, consisting of 'thickened'

    Method feedings and upright positioning in an infant seat. Esophageal manometric studies were No further episodes of postural abnormalities or

    performed according to the methods apnea have been noted during a follow-up period described by Dodds (1976) and Arndorfer Of six months. ef a/. (1977). We now use a 9-lumen CASE manometric tube assembly, only 4.5mm in A 16day-old girl was admitted to the hospital outer diameter. A pH probe to measure for evaluation of three episodes of shaking, intraluminal esophageal pH, inserted body stiffening, and hyperextension of both arms, through the central lumen, emerges from followed by limpness. These episodes occurred

    only after feeding and were associated with the assembly via a side port located 3cm emesis. During her hospital admission the infant above a sleeve Sensor 4cm in length, which regurgitated after most feedings. An EEG was is used to monitor lower esophageal normal but an upper gastro-intestinal series sphincter pressure. When positioned demonstrated gastro-esophageal reflux. Despite

    sphincter pressure and normal peristalsis on the 4cm-s1eeve records i ts pressure manometry, on several occasions the pH electrode continuously, despite axial ITwement of recorded a sudden drop in intraluminal pH, the esophagus during respiration and associated with transient inappropriate lower swallowing (Dent 1976). Six lateral esophageal sphincter relaxation during constant recording orifices are spaced Over a gcm monitoring of the gastro-esophageal junction

    with the sleeve sensor. The patient was treated

    pressure activity in the esophageal body. Vomiting stopped and no further episodes of Another recording orifice at the distal abnormal posturing have occurred during the margin of the sleeve records intragastric past nine months. pressure. During pressure recording, the

    CASE 3 assembly lumens are infused slowly with An eight-month-old girl was referred for water (O' 5m1'min) by a pneumohydraulic evaluation of torticollis. The medical history infusion Pump with minimum compliance revealed postprandial regurgitation during the (Arndorfer er a/. 1977). previous two months, but the torticollis could

    Case reports

    recognition Of the pathophysiology Of the occurring Over a 48-hour period. These episodes

    straddling the lower esophageal sphincter, the demonstration of normal lower esophageal

    segment above the 'Ieeve device to record with 'thickened' feedings and upright positioning,



    not be related to the regurgitation. Results of a physical examination, including a complete neurological evaluation, were normal. An upper gastro-intestinal series failed to show either gastro-esophageal reflux or a hiatal hernia. Esophageal manometric study demonstrated normal peristalsis, and the lower esophageal sphincter pressure was 28mmHg. Esophageal pH monitoring did not record any episodes of gastro- esophageal reflux during a 30-minute observation period. Because gastro-esophageal reflux may be intermittent and the patient was fasting for the study, esophagoscopy was performed. Esophagitis was observed in the distal 3cm of the esophagus. The patient was treated with antacids, 'thickened' feedings and upright posture in an infant seat. Complete resolution of the torticollis occurred within one month and has persisted.

    CASE 4 A 12-week-old boy was admitted for evaluation

    of recurrent vomiting. Previous diagnostic evaluation had included three normal upper gastro-intestinal series, as well as normal skull X-rays, CT scan and EEG. Formula changes had not been helpful. On the day before admission the infant experienced three episodes of shaking, thought to be seizures by the parents. Results of physical and neurological examinations were normal, as was the EEG. Esophageal manometric evaluation revealed normal esophageal motor function; the lower esophageal sphincter pressure was 46mmHg. However, episodes of gastro- esophageal reflux were shown by esophageal pH monitoring. He was treated with 'thickened' feedings and upright positioning. Vomiting decreased dramatically. Three weeks after discharge, another episode of pseudo-seizures, associated with vomiting, occurred at home. He has remained well for the ensuing five months.

    CASE 5 A nine-day-old girl was admitted to hospital

    for episodes of apnea, shaking, cyanosis and choking during the previous three days. These episodes

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